PDMR-843126~344-R~CFV-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3Gain-
A2Mp.P110L
Missense
SNP
0.492
2--
A4GALT-
-
-
-
3Gain-
AADACp.E397K
Missense
SNP
0.343
2--
AAGAB-
-
-
-
3Gain-
AAMDC-
-
-
-
1Loss-
AANAT-
-
-
-
4Gain-
AAR2p.R283W
Missense
SNP
0.459
2--
AARSD1-
-
-
-
4Gain-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
AATF-
-
-
-
4Gain-
AATK-
-
-
-
4Gain-
ABCA1-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCA2-
-
-
-
1Loss-
ABCA3p.D228N
Missense
SNP
0.487
2--
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9p.R1133K
Missense
SNP
0.429
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4p.S99F
Missense
SNP
0.773
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC2p.E1534K
Missense
SNP
1.000
1Loss-
ABCC3-
-
-
-
4Gain-
ABCC4p.S432F
Missense
SNP
0.308
2--
ABCC5p.P1183S
Missense
SNP
0.583
2--
ABCC8-
-
-
-
1Loss-
ABCD4-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD11-
-
-
-
3Gain-
ABHD12B-
-
-
-
3Gain-
ABHD15-
-
-
-
4Gain-
ABHD17B-
-
-
-
1Loss-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABI3-
-
-
-
4Gain-
ABL1-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM3-
-
-
-
3Gain-
ABO-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002094.3-
-
-
-
4Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004687.2-
-
-
-
4Gain-
AC004691.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
4Gain-
AC004832.3-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005520.1-
-
-
-
3Gain-
AC005670.2-
-
-
-
4Gain-
AC005697.1-
-
-
-
4Gain-
AC005702.1-
-
-
-
4Gain-
AC005726.1-
-
-
-
4Gain-
AC005837.2-
-
-
-
4Gain-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007375.1-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC008575.1-
-
-
-
3Gain-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
3Gain-
AC008695.1-
-
-
-
3Gain-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC011195.2-
-
-
-
4Gain-
AC011330.3-
-
-
-
3Gain-
AC012476.1-
-
-
-
3Gain-
AC012651.1-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC015688.4-
-
-
-
4Gain-
AC015802.6-
-
-
-
4Gain-
AC015813.2-
-
-
-
4Gain-
AC018362.3-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC018523.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022400.6-
-
-
-
3Gain-
AC022414.1-
-
-
-
1Loss-
AC026348.1p.P627S
Missense
SNP
0.407
NDND-
AC026398.1-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC046185.1-
-
-
-
4Gain-
AC067752.1-
-
-
-
3Gain-
AC068234.1-
-
-
-
4Gain-
AC068533.4-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC068896.1-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC073508.2-
-
-
-
4Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
4Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
3Gain-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC091959.3-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC099811.2-
-
-
-
4Gain-
AC099850.2-
-
-
-
4Gain-
AC104109.3-
-
-
-
3Gain-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
3Gain-
AC113348.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
4Gain-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
3Gain-
AC124312.1-
-
-
-
3Gain-
AC127029.3-
-
-
-
4Gain-
AC134669.1-
-
-
-
4Gain-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC139530.2-
-
-
-
4Gain-
AC142391.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC244517.10-
-
-
-
3Gain-
AC245033.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
3Gain-
ACACA-
-
-
-
4Gain-
ACAD10p.P297S
Missense
SNP
0.424
2--
ACAD8-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACANp.G1531E
Missense
SNP
0.635
3Gain-
ACAT1-
-
-
-
1Loss-
ACBD3-
-
-
-
1Loss-
ACBD4-
-
-
-
4Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACDp.L62F
Missense
SNP
0.430
2--
ACEp.H863Y
Missense
SNP
0.497
4Gain-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACIN1-
-
-
-
3Gain-
ACLY-
-
-
-
4Gain-
ACO1-
-
-
-
1Loss-
ACO2-
-
-
-
3Gain-
ACOT1-
-
-
-
3Gain-
ACOT12-
-
-
-
1Loss-
ACOT2-
-
-
-
3Gain-
ACOT4-
-
-
-
3Gain-
ACOT6-
-
-
-
3Gain-
ACOX1-
-
-
-
4Gain-
ACP2-
-
-
-
1Loss-
ACR-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
3Gain-
ACSF2-
-
-
-
4Gain-
ACSL5-
-
-
-
1Loss-
ACSL6p.S196F
Missense
SNP
0.663
3Gain-
ACSM6-
-
-
-
1Loss-
ACSS3p.P532S
p.D544N
p.R652Q
Missense
Missense
Missense
SNP
SNP
SNP
0.543
0.450
0.455
2--
ACTA2-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
3Gain-
ACTG1-
-
-
-
4Gain-
ACTL6B-
-
-
-
3Gain-
ACTL7A-
-
-
-
1Loss-
ACTL7B-
-
-
-
1Loss-
ACTN1-
-
-
-
3Gain-
ACTN2p.E581K
Missense
SNP
0.490
2--
ACTN3-
-
-
-
1Loss-
ACTR10-
-
-
-
3Gain-
ACTR1A-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTRT1p.R119*
Nonsense
SNP
1.000
NDND-
ACY3-
-
-
-
1Loss-
ACYP1-
-
-
-
3Gain-
ADAD1p.M88I
Missense
SNP
0.485
2--
ADAL-
-
-
-
3Gain-
ADAM10-
-
-
-
3Gain-
ADAM11-
-
-
-
4Gain-
ADAM12-
-
-
-
1Loss-
ADAM18p.P289S
Missense
SNP
0.474
2--
ADAM19-
-
-
-
3Gain-
ADAM2p.G592E
Missense
SNP
0.511
2--
ADAM20-
-
-
-
3Gain-
ADAM21-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAM23p.G458D
Missense
SNP
0.473
2--
ADAM29p.E719K
Missense
SNP
0.500
2--
ADAM7p.E414K
p.L570F
Missense
Missense
SNP
SNP
0.527
0.571
2--
ADAM8-
-
-
-
1Loss-
ADAMDEC1p.S204L
Missense
SNP
0.470
2--
ADAMTS12-
-
-
-
1Loss-
ADAMTS13-
-
-
-
1Loss-
ADAMTS14-
-
-
-
3Gain-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS18p.E645K
p.H385Y
Missense
Missense
SNP
SNP
0.485
0.429
2--
ADAMTS19-
-
-
-
3Gain-
ADAMTS2-
-
-
-
3Gain-
ADAMTS20p.G1169E
p.S349F
Missense
Missense
SNP
SNP
0.443
0.458
2--
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9p.R480Q
Missense
SNP
0.500
2--
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
1Loss-
ADAMTSL3p.P704L
p.H1542Y
Missense
Missense
SNP
SNP
0.405
0.339
3Gain-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
4Gain-
ADARB2-
-
-
-
3Gain-
ADCK1-
-
-
-
3Gain-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY2-
-
-
-
1Loss-
ADCY4-
-
-
-
3Gain-
ADCY6p.G721D
Missense
SNP
0.523
2--
ADCY8p.S822F
Missense
SNP
0.542
2--
ADCYAP1R1-
-
-
-
3Gain-
ADD2p.E494K
Missense
SNP
0.450
2--
ADD3-
-
-
-
1Loss-
ADGRA1p.E403K
Missense
SNP
1.000
0Del-
ADGRB3p.E436K
p.S801L
p.S966L
Missense
Missense
Missense
SNP
SNP
SNP
0.386
0.482
0.451
2--
ADGRD2-
-
-
-
1Loss-
ADGRE1p.P501L
Missense
SNP
1.000
2--
ADGRG4p.S287F
Missense
SNP
1.000
NDND-
ADGRL3p.S978L
Missense
SNP
0.577
2--
ADGRV1p.S5551F
Missense
SNP
1.000
1Loss-
ADH1Ap.D335N
Missense
SNP
0.479
2--
ADH1Cp.R219K
Missense
SNP
0.539
2--
ADH4p.G159E
Missense
SNP
0.508
2--
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
3Gain-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
3Gain-
ADO-
-
-
-
3Gain-
ADORA2A-
-
-
-
3Gain-
ADPGK-
-
-
-
3Gain-
ADRA1B-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
3Gain-
ADSL-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEN-
-
-
-
3Gain-
AFAP1L1-
-
-
-
3Gain-
AFAP1L2-
-
-
-
1Loss-
AFF3p.P355S
Missense
SNP
0.546
2--
AFF4-
-
-
-
3Gain-
AFMID-
-
-
-
4Gain-
AGAP3-
-
-
-
3Gain-
AGBL1p.R965Q
Missense
SNP
0.393
3Gain-
AGBL2-
-
-
-
1Loss-
AGBL3p.E588K
Missense
SNP
0.310
3Gain-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGMOp.S425F
Missense
SNP
0.349
3Gain-
AGPAT2-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGTPBP1-
-
-
-
1Loss-
AGXT2-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHNAK-
-
-
-
1Loss-
AHNAK2p.A4287V
Missense
SNP
0.291
3Gain-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
1Loss-
AHSA1-
-
-
-
3Gain-
AIF1L-
-
-
-
1Loss-
AIFM2-
-
-
-
3Gain-
AIFM3p.M381I
Missense
SNP
0.681
3Gain-
AIM1p.D1315N
p.E1498K
Missense
Missense
SNP
SNP
0.446
0.500
NDND-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AJM1-
-
-
-
1Loss-
AJUBA-
-
-
-
3Gain-
AK1-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
3Gain-
AK8-
-
-
-
1Loss-
AKAP1-
-
-
-
4Gain-
AKAP10p.E462K
Missense
SNP
1.000
2--
AKAP13-
-
-
-
3Gain-
AKAP2-
-
-
-
1Loss-
AKAP5-
-
-
-
3Gain-
AKAP6-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKIP1-
-
-
-
1Loss-
AKNA-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKT1-
-
-
-
3Gain-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049779.1-
-
-
-
3Gain-
AL049839.2-
-
-
-
3Gain-
AL096870.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
3Gain-
AL117339.5-
-
-
-
3Gain-
AL117348.2-
-
-
-
1Loss-
AL121594.1-
-
-
-
3Gain-
AL132780.3-
-
-
-
3Gain-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136295.1-
-
-
-
3Gain-
AL136295.3-
-
-
-
3Gain-
AL136295.4-
-
-
-
3Gain-
AL136295.5-
-
-
-
3Gain-
AL139300.1-
-
-
-
3Gain-
AL139353.1-
-
-
-
3Gain-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
1Loss-
AL160269.1-
-
-
-
1Loss-
AL160272.2-
-
-
-
1Loss-
AL162417.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
3Gain-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
3Gain-
AL355987.1-
-
-
-
1Loss-
AL355987.3-
-
-
-
1Loss-
AL358113.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL672142.1-
-
-
-
1Loss-
AL807752.6-
-
-
-
1Loss-
AL807752.7-
-
-
-
1Loss-
AL928654.3-
-
-
-
3Gain-
AL929554.1-
-
-
-
1Loss-
ALAD-
-
-
-
1Loss-
ALBp.S311F
Missense
SNP
0.437
2--
ALCAMp.P179S
Missense
SNP
0.506
2--
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH6A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
3Gain-
ALDOB-
-
-
-
1Loss-
ALDOC-
-
-
-
4Gain-
ALG12-
-
-
-
3Gain-
ALG2-
-
-
-
1Loss-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKBH1-
-
-
-
3Gain-
ALKBH3-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALKBH8-
-
-
-
1Loss-
ALOX5-
-
-
-
3Gain-
ALPK3p.S1298F
Missense
SNP
0.623
3Gain-
ALPPp.G473D
Missense
SNP
0.477
2--
ALPPL2p.E473K
Missense
SNP
0.476
NDND-
ALX4-
-
-
-
1Loss-
ALYREF-
-
-
-
4Gain-
AMACR-
-
-
-
1Loss-
AMBP-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMIGO2p.R101C
Missense
SNP
0.462
2--
AMN-
-
-
-
3Gain-
AMOTL1-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMY2Bp.D140N
Missense
SNP
0.491
2--
AMZ1-
-
-
-
3Gain-
AMZ2-
-
-
-
4Gain-
ANAPC11-
-
-
-
4Gain-
ANAPC15-
-
-
-
1Loss-
ANAPC16-
-
-
-
3Gain-
ANAPC2-
-
-
-
1Loss-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
3Gain-
ANGPTL2-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANK3p.P2924L
Missense
SNP
0.313
3Gain-
ANKDD1A-
-
-
-
3Gain-
ANKDD1B-
-
-
-
1Loss-
ANKFN1p.X439_splice
Splice_Site
SNP
0.457
4Gain-
ANKH-
-
-
-
1Loss-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKIB1-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD13B-
-
-
-
4Gain-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
3Gain-
ANKRD18Bp.G294R
Missense
SNP
0.256
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD26-
-
-
-
3Gain-
ANKRD30Ap.E133K
p.G356E
p.E1047K
Missense
Missense
Missense
SNP
SNP
SNP
0.572
0.664
0.347
3Gain-
ANKRD30Bp.G84S
Missense
SNP
0.494
2--
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
3Gain-
ANKRD40-
-
-
-
4Gain-
ANKRD40CL-
-
-
-
4Gain-
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD62p.E642K
Missense
SNP
0.453
2--
ANKRD63-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
3Gain-
ANKS1Bp.L28F
Missense
SNP
0.465
2--
ANKS6-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO4p.G82E
p.L780F
Missense
Missense
SNP
SNP
0.489
0.561
2--
ANO5-
-
-
-
1Loss-
ANO7p.R2Q
Missense
SNP
0.400
2--
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
3Gain-
ANP32B-
-
-
-
1Loss-
ANPEP-
-
-
-
3Gain-
ANTXRL-
-
-
-
3Gain-
ANXA1-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
1Loss-
ANXA6-
-
-
-
3Gain-
ANXA7-
-
-
-
3Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
AOAHp.G306E
Missense
SNP
0.642
3Gain-
AOC1-
-
-
-
3Gain-
AOC2-
-
-
-
4Gain-
AOC3-
-
-
-
4Gain-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1B1-
-
-
-
3Gain-
AP1G2-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP2B1-
-
-
-
4Gain-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
3Gain-
AP3M1-
-
-
-
3Gain-
AP3S1-
-
-
-
3Gain-
AP3S2-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP4S1-
-
-
-
3Gain-
AP5B1-
-
-
-
1Loss-
AP5M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA1-
-
-
-
1Loss-
APBA2-
-
-
-
3Gain-
APBB1-
-
-
-
1Loss-
APBB1IPp.V179I
Missense
SNP
0.747
3Gain-
APBB3-
-
-
-
3Gain-
APC-
-
-
-
3Gain-
APCSp.D157N
Missense
SNP
0.495
2--
APEX1-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLFp.D122N
Missense
SNP
0.490
2--
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBp.E4215K
p.D2993N
Missense
Missense
SNP
SNP
0.411
0.498
2--
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOBRp.E833K
Missense
SNP
0.471
2--
APOC3-
-
-
-
1Loss-
APOH-
-
-
-
4Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOPT1-
-
-
-
3Gain-
APPBP2-
-
-
-
4Gain-
APTX-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQP9-
-
-
-
3Gain-
AQR-
-
-
-
3Gain-
ARAFp.P219S
Missense
SNP
1.000
NDND-
ARAP1-
-
-
-
1Loss-
ARAP2p.R1628Q
p.E618K
Missense
Missense
SNP
SNP
0.508
0.474
2--
ARAP3-
-
-
-
3Gain-
ARCN1-
-
-
-
1Loss-
AREL1-
-
-
-
3Gain-
ARF1-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
3Gain-
ARFGEF3p.E498K
Missense
SNP
0.547
2--
ARFIP2-
-
-
-
1Loss-
ARG2-
-
-
-
3Gain-
ARHGAP1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
3Gain-
ARHGAP12-
-
-
-
3Gain-
ARHGAP15p.S4F
Missense
SNP
0.481
2--
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP21p.S642L
Missense
SNP
0.611
3Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP23-
-
-
-
4Gain-
ARHGAP24p.R175*
Nonsense
SNP
0.432
2--
ARHGAP26-
-
-
-
3Gain-
ARHGAP27-
-
-
-
4Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP5-
-
-
-
3Gain-
ARHGAP8-
-
-
-
3Gain-
ARHGDIA-
-
-
-
4Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF17-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF37-
-
-
-
3Gain-
ARHGEF40-
-
-
-
3Gain-
ARHGEF5p.R1519*
Nonsense
SNP
0.675
3Gain-
ARID1Ap.M872T
Missense
SNP
0.521
2--
ARID3B-
-
-
-
3Gain-
ARID4Ap.E564Q
Missense
SNP
0.620
3Gain-
ARID5Bp.P1114L
Missense
SNP
0.663
3Gain-
ARIH1-
-
-
-
3Gain-
ARL10-
-
-
-
3Gain-
ARL11-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL14EPL-
-
-
-
3Gain-
ARL15-
-
-
-
1Loss-
ARL16-
-
-
-
4Gain-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL4D-
-
-
-
4Gain-
ARL5B-
-
-
-
3Gain-
ARL5C-
-
-
-
4Gain-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4p.R609C
Missense
SNP
0.289
3Gain-
ARMC7-
-
-
-
4Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
3Gain-
ARMS2-
-
-
-
1Loss-
ARNT2-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC5L-
-
-
-
1Loss-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARRDC1-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
3Gain-
ARSA-
-
-
-
3Gain-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
4Gain-
ARSI-
-
-
-
3Gain-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3p.L317F
Missense
SNP
0.530
2--
ART5-
-
-
-
1Loss-
ARVCF-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
3Gain-
ASAH2B-
-
-
-
3Gain-
ASAP2p.S966F
Missense
SNP
0.542
2--
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB16-
-
-
-
4Gain-
ASB2-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB6-
-
-
-
1Loss-
ASB7-
-
-
-
3Gain-
ASCC1-
-
-
-
3Gain-
ASCC2-
-
-
-
3Gain-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASIC2-
-
-
-
4Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPG-
-
-
-
3Gain-
ASPHD2-
-
-
-
3Gain-
ASPN-
-
-
-
1Loss-
ASPSCR1-
-
-
-
4Gain-
ASRGL1-
-
-
-
1Loss-
ASS1-
-
-
-
1Loss-
ASTN1p.D896N
Missense
SNP
0.528
2--
ASTN2-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD5-
-
-
-
4Gain-
ATE1-
-
-
-
1Loss-
ATF4-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
3Gain-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
3Gain-
ATG16L2-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG2Bp.R755C
Missense
SNP
0.305
3Gain-
ATG9B-
-
-
-
3Gain-
ATL1p.R217*
Nonsense
SNP
0.606
3Gain-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATOH7-
-
-
-
3Gain-
ATOX1-
-
-
-
3Gain-
ATP10A-
-
-
-
3Gain-
ATP10B-
-
-
-
3Gain-
ATP10Dp.Q58*
Nonsense
SNP
0.547
2--
ATP12Ap.R713W
Missense
SNP
0.378
2--
ATP13A5p.P961L
Missense
SNP
0.478
2--
ATP1A3p.N800S
Missense
SNP
0.980
2--
ATP2B1p.S360F
Missense
SNP
0.497
2--
ATP5F1C-
-
-
-
3Gain-
ATP5MC1-
-
-
-
4Gain-
ATP5MD-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP5MGL-
-
-
-
3Gain-
ATP5MPL-
-
-
-
3Gain-
ATP5PD-
-
-
-
4Gain-
ATP5S-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
4Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1D-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
1Loss-
ATP8A2p.E1108K
Missense
SNP
0.417
2--
ATP8B3p.E1216K
Missense
SNP
1.000
2--
ATP8B4-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN10-
-
-
-
3Gain-
ATXN3-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L3-
-
-
-
4Gain-
AUH-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AXDND1p.E693K
Missense
SNP
0.432
2--
AXIN2-
-
-
-
4Gain-
AZGP1-
-
-
-
3Gain-
B2M-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT6-
-
-
-
1Loss-
B3GNTL1-
-
-
-
4Gain-
B4GALNT2-
-
-
-
4Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT7-
-
-
-
3Gain-
B4GAT1-
-
-
-
1Loss-
BAAT-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAG5-
-
-
-
3Gain-
BAHCC1-
-
-
-
4Gain-
BAHD1-
-
-
-
3Gain-
BAIAP2-
-
-
-
4Gain-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
3Gain-
BAIAP3p.G317S
Missense
SNP
0.471
2--
BAMBI-
-
-
-
3Gain-
BANF1-
-
-
-
1Loss-
BARHL1-
-
-
-
1Loss-
BARX1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
1Loss-
BATF-
-
-
-
3Gain-
BATF2-
-
-
-
1Loss-
BAZ1A-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
3Gain-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS4-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAS3-
-
-
-
4Gain-
BCCIP-
-
-
-
1Loss-
BCL11B-
-
-
-
3Gain-
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1p.E270K
Missense
SNP
0.228
2--
BCO2-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BDKRB1-
-
-
-
3Gain-
BDKRB2p.R196Q
Missense
SNP
0.645
3Gain-
BDNF-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BECN1-
-
-
-
4Gain-
BEGAIN-
-
-
-
3Gain-
BEND7-
-
-
-
3Gain-
BEST1-
-
-
-
1Loss-
BEST3p.S453F
Missense
SNP
0.470
2--
BET1-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1p.T462I
Missense
SNP
0.326
3Gain-
BICD2-
-
-
-
1Loss-
BIK-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC5-
-
-
-
4Gain-
BLID-
-
-
-
1Loss-
BLM-
-
-
-
3Gain-
BLMH-
-
-
-
4Gain-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S6-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMP15p.L368F
Missense
SNP
1.000
NDND-
BMP2p.P332S
Missense
SNP
0.459
2--
BMP4-
-
-
-
3Gain-
BMPERp.E567K
Missense
SNP
0.280
3Gain-
BMPR1A-
-
-
-
1Loss-
BMS1-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BOD1-
-
-
-
3Gain-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIFC-
-
-
-
3Gain-
BPNT1-
-
-
-
1Loss-
BPTF-
-
-
-
4Gain-
BRAF-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRCA1p.L1439F
Missense
SNP
0.447
4Gain-
BRD1-
-
-
-
3Gain-
BRD3-
-
-
-
1Loss-
BRD8-
-
-
-
3Gain-
BRD9-
-
-
-
1Loss-
BRF1-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP1-
-
-
-
1Loss-
BRINP3-
-
-
-
3Gain-
BRIP1-
-
-
-
4Gain-
BRIX1-
-
-
-
1Loss-
BRMS1-
-
-
-
1Loss-
BRMS1L-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSPRY-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
3Gain-
BTBD10-
-
-
-
1Loss-
BTBD11p.M732I
Missense
SNP
0.492
2--
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
4Gain-
BTBD18-
-
-
-
1Loss-
BTBD6-
-
-
-
3Gain-
BTBD7-
-
-
-
3Gain-
BTF3-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTN3A3p.S219F
Missense
SNP
0.480
2--
BTNL3-
-
-
-
3Gain-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB1B-
-
-
-
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BVESp.M66I
Missense
SNP
0.565
2--
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
1Loss-
C10orf53p.D38N
Missense
SNP
0.446
3Gain-
C10orf55-
-
-
-
3Gain-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
3Gain-
C10orf71p.E110K
p.S1130L
Missense
Missense
SNP
SNP
0.641
0.315
3Gain-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24p.L402F
Missense
SNP
0.990
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf50p.R389Q
Missense
SNP
0.442
2--
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
3Gain-
C14orf177-
-
-
-
3Gain-
C14orf178-
-
-
-
3Gain-
C14orf180-
-
-
-
3Gain-
C14orf28-
-
-
-
3Gain-
C14orf39-
-
-
-
3Gain-
C14orf93-
-
-
-
3Gain-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf53-
-
-
-
3Gain-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C16orf78p.S88F
Missense
SNP
0.545
2--
C16orf92p.V18I
Missense
SNP
0.472
2--
C17orf47-
-
-
-
4Gain-
C17orf50-
-
-
-
4Gain-
C17orf53-
-
-
-
4Gain-
C17orf58-
-
-
-
4Gain-
C17orf64-
-
-
-
4Gain-
C17orf67-
-
-
-
4Gain-
C17orf75-
-
-
-
4Gain-
C17orf78-
-
-
-
4Gain-
C17orf80-
-
-
-
4Gain-
C17orf98-
-
-
-
4Gain-
C17orf99-
-
-
-
4Gain-
C1GALT1-
-
-
-
3Gain-
C1orf168p.E650K
Missense
SNP
0.538
NDND-
C1orf35-
-
-
-
1Loss-
C1QL1-
-
-
-
4Gain-
C1QL3-
-
-
-
3Gain-
C1QTNF1-
-
-
-
4Gain-
C1QTNF2-
-
-
-
3Gain-
C1QTNF3-
-
-
-
1Loss-
C1QTNF3-AMACR-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF6-
-
-
-
3Gain-
C1QTNF9Bp.G140R
Missense
SNP
0.197
2--
C1Rp.R538S
Missense
SNP
0.437
2--
C20orf194p.P875S
Missense
SNP
0.378
2--
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5-
-
-
-
1Loss-
C5orf15-
-
-
-
3Gain-
C5orf22-
-
-
-
1Loss-
C5orf24-
-
-
-
3Gain-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf46-
-
-
-
3Gain-
C5orf47-
-
-
-
3Gain-
C5orf49-
-
-
-
1Loss-
C5orf51-
-
-
-
1Loss-
C5orf52-
-
-
-
3Gain-
C5orf58-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C5orf63-
-
-
-
3Gain-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
1Loss-
C7-
-
-
-
1Loss-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8Ap.E162K
p.G377E
Missense
Missense
SNP
SNP
0.409
0.456
2--
C8G-
-
-
-
1Loss-
C9-
-
-
-
1Loss-
C9orf116-
-
-
-
1Loss-
C9orf129-
-
-
-
1Loss-
C9orf135-
-
-
-
1Loss-
C9orf152-
-
-
-
1Loss-
C9orf153-
-
-
-
1Loss-
C9orf16-
-
-
-
1Loss-
C9orf3-
-
-
-
1Loss-
C9orf40-
-
-
-
1Loss-
C9orf43-
-
-
-
1Loss-
C9orf50-
-
-
-
1Loss-
C9orf57-
-
-
-
1Loss-
C9orf64-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf78-
-
-
-
1Loss-
C9orf84-
-
-
-
1Loss-
C9orf85-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA10-
-
-
-
4Gain-
CA12-
-
-
-
3Gain-
CA4-
-
-
-
4Gain-
CA5Ap.H130Y
Missense
SNP
0.493
2--
CA9p.P77S
Missense
SNP
0.457
2--
CAAP1-
-
-
-
1Loss-
CAB39L-
-
-
-
3Gain-
CABCOCO1-
-
-
-
3Gain-
CABIN1-
-
-
-
3Gain-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABP7-
-
-
-
3Gain-
CACFD1-
-
-
-
1Loss-
CACNA1Ap.H253Y
Missense
SNP
0.992
2--
CACNA1Bp.P222S
Missense
SNP
1.000
1Loss-
CACNA1Cp.S927F
p.E1355K
p.G2049D
Missense
Missense
Missense
SNP
SNP
SNP
0.490
0.436
0.487
2--
CACNA1Dp.R1575*
Nonsense
SNP
0.489
2--
CACNA1Fp.R1299*
p.W1088*
Nonsense
Nonsense
SNP
SNP
1.000
1.000
NDND-
CACNA1G-
-
-
-
4Gain-
CACNA1I-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D3p.G334E
p.S1021F
Missense
Missense
SNP
SNP
0.532
0.503
2--
CACNB1-
-
-
-
4Gain-
CACNB2-
-
-
-
3Gain-
CACNG1-
-
-
-
4Gain-
CACNG2-
-
-
-
3Gain-
CACNG4-
-
-
-
4Gain-
CACNG5-
-
-
-
4Gain-
CACUL1-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CADM2p.E88K
p.D178N
Missense
Missense
SNP
SNP
0.526
0.479
2--
CADPS2-
-
-
-
3Gain-
CAGE1p.A217V
Missense
SNP
0.440
2--
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO2-
-
-
-
4Gain-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMK2A-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK2G-
-
-
-
3Gain-
CAMK4-
-
-
-
3Gain-
CAMLG-
-
-
-
3Gain-
CAMSAP1-
-
-
-
1Loss-
CAMSAP3p.P553L
Missense
SNP
1.000
2--
CANT1-
-
-
-
4Gain-
CANX-
-
-
-
3Gain-
CAPN1-
-
-
-
1Loss-
CAPN13p.P146L
Missense
SNP
0.505
2--
CAPN3-
-
-
-
3Gain-
CAPN5-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPSL-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD10p.E885K
Missense
SNP
0.385
3Gain-
CARD11-
-
-
-
3Gain-
CARD14-
-
-
-
4Gain-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD19-
-
-
-
1Loss-
CARD6-
-
-
-
1Loss-
CARD9-
-
-
-
1Loss-
CARFp.S482F
Missense
SNP
0.495
2--
CARMIL3-
-
-
-
3Gain-
CARNMT1-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC10-
-
-
-
3Gain-
CASC3-
-
-
-
4Gain-
CASC4-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASKIN2-
-
-
-
4Gain-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASS4p.S578F
Missense
SNP
0.525
2--
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CAT-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER2-
-
-
-
3Gain-
CATSPER3-
-
-
-
3Gain-
CATSPERB-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN1-
-
-
-
4Gain-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
1Loss-
CBFA2T3p.A171V
Missense
SNP
0.529
2--
CBL-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN3-
-
-
-
3Gain-
CBX1-
-
-
-
4Gain-
CBX2-
-
-
-
4Gain-
CBX3-
-
-
-
3Gain-
CBX4-
-
-
-
4Gain-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBX8-
-
-
-
4Gain-
CBY1-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CC2D1Ap.P342L
Missense
SNP
0.981
2--
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
3Gain-
CCDC103-
-
-
-
4Gain-
CCDC112-
-
-
-
3Gain-
CCDC113p.R78*
Nonsense
SNP
0.430
2--
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
1Loss-
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC137-
-
-
-
4Gain-
CCDC146-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC152-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC171-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC175-
-
-
-
3Gain-
CCDC179-
-
-
-
1Loss-
CCDC180-
-
-
-
1Loss-
CCDC182-
-
-
-
4Gain-
CCDC183-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
3Gain-
CCDC197-
-
-
-
3Gain-
CCDC198-
-
-
-
3Gain-
CCDC3-
-
-
-
3Gain-
CCDC32-
-
-
-
3Gain-
CCDC33-
-
-
-
3Gain-
CCDC34-
-
-
-
1Loss-
CCDC40-
-
-
-
4Gain-
CCDC43-
-
-
-
4Gain-
CCDC47-
-
-
-
4Gain-
CCDC57-
-
-
-
4Gain-
CCDC6-
-
-
-
3Gain-
CCDC60p.S441F
Missense
SNP
0.444
2--
CCDC65p.E359K
Missense
SNP
0.424
2--
CCDC69-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC73-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC85C-
-
-
-
3Gain-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC88C-
-
-
-
3Gain-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC92p.S71L
Missense
SNP
0.428
2--
CCDC9B-
-
-
-
3Gain-
CCKBR-
-
-
-
1Loss-
CCL1-
-
-
-
4Gain-
CCL11-
-
-
-
4Gain-
CCL13-
-
-
-
4Gain-
CCL14-
-
-
-
4Gain-
CCL15-
-
-
-
4Gain-
CCL15-CCL14-
-
-
-
4Gain-
CCL16-
-
-
-
4Gain-
CCL18-
-
-
-
4Gain-
CCL2-
-
-
-
4Gain-
CCL21p.R104K
Missense
SNP
0.515
2--
CCL23-
-
-
-
4Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL28-
-
-
-
1Loss-
CCL3-
-
-
-
4Gain-
CCL3L1-
-
-
-
4Gain-
CCL4-
-
-
-
4Gain-
CCL4L2-
-
-
-
4Gain-
CCL5-
-
-
-
4Gain-
CCL7-
-
-
-
4Gain-
CCL8-
-
-
-
4Gain-
CCM2-
-
-
-
3Gain-
CCNA1p.R261*
p.R354Q
Nonsense
Missense
SNP
SNP
0.604
0.606
2--
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
3Gain-
CCNB2-
-
-
-
3Gain-
CCNB3p.D1352N
Missense
SNP
1.000
NDND-
CCND1-
-
-
-
1Loss-
CCND2p.G268E
Missense
SNP
0.440
2--
CCNDBP1-
-
-
-
3Gain-
CCNG1-
-
-
-
3Gain-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
3Gain-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
3Gain-
CCNK-
-
-
-
3Gain-
CCNO-
-
-
-
1Loss-
CCNY-
-
-
-
3Gain-
CCPG1-
-
-
-
3Gain-
CCR1p.P23S
Missense
SNP
0.466
2--
CCR10p.S348F
Missense
SNP
0.534
4Gain-
CCR7-
-
-
-
4Gain-
CCS-
-
-
-
1Loss-
CCSER1p.G614E
Missense
SNP
0.529
2--
CCSER2-
-
-
-
1Loss-
CCT5-
-
-
-
1Loss-
CCT6A-
-
-
-
3Gain-
CCT6B-
-
-
-
4Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD14-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD180p.G545E
Missense
SNP
1.000
1Loss-
CD1Ap.D51N
Missense
SNP
0.552
2--
CD1Ep.R174C
Missense
SNP
0.516
2--
CD248-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
3Gain-
CD300A-
-
-
-
4Gain-
CD300C-
-
-
-
4Gain-
CD300E-
-
-
-
4Gain-
CD300LB-
-
-
-
4Gain-
CD300LD-
-
-
-
4Gain-
CD300LF-
-
-
-
4Gain-
CD300LG-
-
-
-
4Gain-
CD36-
-
-
-
3Gain-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD44-
-
-
-
1Loss-
CD5-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD6-
-
-
-
1Loss-
CD7-
-
-
-
4Gain-
CD74-
-
-
-
3Gain-
CD79B-
-
-
-
4Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD93p.E420K
Missense
SNP
0.585
2--
CDADC1-
-
-
-
3Gain-
CDAN1-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14B-
-
-
-
1Loss-
CDC14C-
-
-
-
3Gain-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
3Gain-
CDC25C-
-
-
-
3Gain-
CDC26-
-
-
-
1Loss-
CDC27-
-
-
-
4Gain-
CDC37L1-
-
-
-
1Loss-
CDC40p.R416W
Missense
SNP
0.449
2--
CDC42BPA-
-
-
-
1Loss-
CDC42BPB-
-
-
-
3Gain-
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
1Loss-
CDC42EP4-
-
-
-
4Gain-
CDC42SE2-
-
-
-
3Gain-
CDC45-
-
-
-
3Gain-
CDC6-
-
-
-
4Gain-
CDCA4-
-
-
-
3Gain-
CDCA5-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCP1p.W448*
Nonsense
SNP
0.530
2--
CDH10p.G593D
Missense
SNP
1.000
1Loss-
CDH11p.E162K
Missense
SNP
0.558
2--
CDH12p.L203F
Missense
SNP
1.000
1Loss-
CDH18-
-
-
-
1Loss-
CDH2p.R156K
Missense
SNP
0.485
2--
CDH23-
-
-
-
3Gain-
CDH24-
-
-
-
3Gain-
CDH6-
-
-
-
1Loss-
CDH7p.G658E
Missense
SNP
0.622
2--
CDH9-
-
-
-
1Loss-
CDHR1-
-
-
-
1Loss-
CDHR2-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
3Gain-
CDK12-
-
-
-
4Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK20-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK3-
-
-
-
4Gain-
CDK5-
-
-
-
3Gain-
CDK5R1-
-
-
-
4Gain-
CDK5RAP2-
-
-
-
1Loss-
CDK5RAP3-
-
-
-
4Gain-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK9-
-
-
-
1Loss-
CDKL1-
-
-
-
3Gain-
CDKL3-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
3Gain-
CDKN2B-
-
-
-
1Loss-
CDKN3-
-
-
-
3Gain-
CDNF-
-
-
-
3Gain-
CDO1-
-
-
-
3Gain-
CDON-
-
-
-
1Loss-
CDPF1-
-
-
-
3Gain-
CDR2L-
-
-
-
4Gain-
CDX1p.N247S
Missense
SNP
0.629
3Gain-
CEBPE-
-
-
-
3Gain-
CEL-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF6-
-
-
-
3Gain-
CELSR1-
-
-
-
3Gain-
CEMIP-
-
-
-
3Gain-
CEMIP2-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPBp.Q331*
Nonsense
SNP
0.490
2--
CENPFp.S1012L
p.E2122K
Missense
Missense
SNP
SNP
0.493
0.480
2--
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPM-
-
-
-
3Gain-
CENPP-
-
-
-
1Loss-
CENPX-
-
-
-
4Gain-
CEP112p.E356K
Missense
SNP
0.417
4Gain-
CEP120p.R563C
Missense
SNP
0.324
3Gain-
CEP126-
-
-
-
1Loss-
CEP128-
-
-
-
3Gain-
CEP131-
-
-
-
4Gain-
CEP152-
-
-
-
3Gain-
CEP164-
-
-
-
1Loss-
CEP170B-
-
-
-
3Gain-
CEP192p.S212F
Missense
SNP
0.538
2--
CEP295-
-
-
-
1Loss-
CEP295NL-
-
-
-
4Gain-
CEP41-
-
-
-
3Gain-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP72-
-
-
-
1Loss-
CEP78-
-
-
-
1Loss-
CEP95-
-
-
-
4Gain-
CER1-
-
-
-
1Loss-
CERCAM-
-
-
-
1Loss-
CERK-
-
-
-
3Gain-
CERS3p.R75*
Nonsense
SNP
0.295
3Gain-
CES3p.S478F
Missense
SNP
0.412
2--
CETN3-
-
-
-
1Loss-
CFAP157-
-
-
-
1Loss-
CFAP161-
-
-
-
3Gain-
CFAP300-
-
-
-
1Loss-
CFAP43p.E1173K
Missense
SNP
1.000
1Loss-
CFAP46-
-
-
-
0Del-
CFAP54p.G2504E
Missense
SNP
0.453
2--
CFAP58-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
3Gain-
CFAP77-
-
-
-
1Loss-
CFAP97D1-
-
-
-
4Gain-
CFHp.R1149Q
Missense
SNP
0.478
2--
CFHR4p.D424N
p.S561L
Missense
Missense
SNP
SNP
0.542
0.539
2--
CFHR5p.G527E
Missense
SNP
0.451
2--
CFL1-
-
-
-
1Loss-
CFL2-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CGRRF1-
-
-
-
3Gain-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
3Gain-
CHAD-
-
-
-
4Gain-
CHADL-
-
-
-
3Gain-
CHATp.S425F
p.E737K
Missense
Missense
SNP
SNP
0.634
0.278
3Gain-
CHCHD1-
-
-
-
3Gain-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD2-
-
-
-
3Gain-
CHD5p.S714F
Missense
SNP
0.482
2--
CHD8-
-
-
-
3Gain-
CHDHp.D507N
Missense
SNP
0.510
2--
CHEK1-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHGA-
-
-
-
3Gain-
CHGBp.S46L
p.P300S
Missense
Missense
SNP
SNP
0.517
0.508
2--
CHID1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHMP4A-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHMP6-
-
-
-
4Gain-
CHN2-
-
-
-
3Gain-
CHORDC1-
-
-
-
1Loss-
CHP1-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
3Gain-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM3p.R133*
Nonsense
SNP
0.547
2--
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA7-
-
-
-
3Gain-
CHRNB3p.P161S
p.S270L
Missense
Missense
SNP
SNP
0.475
0.457
2--
CHRNB4-
-
-
-
3Gain-
CHST1-
-
-
-
1Loss-
CHST11p.D337N
Missense
SNP
0.448
2--
CHST12-
-
-
-
3Gain-
CHST14-
-
-
-
3Gain-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
3Gain-
CHST9p.E95K
Missense
SNP
0.480
2--
CHSY1-
-
-
-
3Gain-
CHSY3-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
3Gain-
CHURC1-FNTB-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CIDEB-
-
-
-
3Gain-
CILP-
-
-
-
3Gain-
CINP-
-
-
-
3Gain-
CIPC-
-
-
-
3Gain-
CISD1-
-
-
-
3Gain-
CISD3-
-
-
-
4Gain-
CIZ1-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
3Gain-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKMT2-
-
-
-
1Loss-
CKS2-
-
-
-
1Loss-
CLBA1-
-
-
-
3Gain-
CLCF1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCNKAp.M67I
Missense
SNP
0.473
2--
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
3Gain-
CLDND1p.L202F
Missense
SNP
0.481
2--
CLEC14A-
-
-
-
3Gain-
CLEC18Bp.S183F
Missense
SNP
0.294
2--
CLEC2L-
-
-
-
3Gain-
CLEC4Dp.G114E
Missense
SNP
0.469
2--
CLEC4Ep.G216E
Missense
SNP
0.510
2--
CLEC4Mp.G329E
Missense
SNP
1.000
2--
CLEC5A-
-
-
-
3Gain-
CLIC3-
-
-
-
1Loss-
CLINT1-
-
-
-
3Gain-
CLIP1p.S340F
Missense
SNP
0.489
2--
CLIP2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLMN-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLNS1A-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPTM1L-
-
-
-
1Loss-
CLPX-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLSPNp.S1233F
Missense
SNP
0.495
2--
CLSTN2p.E199K
Missense
SNP
0.491
2--
CLTB-
-
-
-
3Gain-
CLTC-
-
-
-
4Gain-
CLTCL1-
-
-
-
3Gain-
CLUp.D280N
Missense
SNP
0.444
2--
CLVS2p.S143F
Missense
SNP
0.578
2--
CMA1-
-
-
-
3Gain-
CMBL-
-
-
-
1Loss-
CMTM5-
-
-
-
3Gain-
CMYA5p.G1397E
Missense
SNP
1.000
1Loss-
CNDP1p.G245E
Missense
SNP
0.382
2--
CNGA4-
-
-
-
1Loss-
CNIH1-
-
-
-
3Gain-
CNIH2-
-
-
-
1Loss-
CNIH3-
-
-
-
1Loss-
CNIH4-
-
-
-
1Loss-
CNKSR2p.R843Q
Missense
SNP
1.000
NDND-
CNN2p.E327K
Missense
SNP
1.000
2--
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM4p.T302I
Missense
SNP
0.491
2--
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
3Gain-
CNOT8-
-
-
-
3Gain-
CNP-
-
-
-
4Gain-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTD1-
-
-
-
4Gain-
CNTF-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN1p.E664K
Missense
SNP
0.509
2--
CNTN5p.S379F
Missense
SNP
0.987
1Loss-
CNTN6p.R674C
p.R714W
Missense
Missense
SNP
SNP
0.449
0.487
2--
CNTNAP1-
-
-
-
4Gain-
CNTNAP2p.D634N
p.S687F
p.E1208K
Missense
Missense
Missense
SNP
SNP
SNP
0.717
0.304
0.690
5Amp-
CNTNAP4p.D13N
p.R327K
p.G601E
Missense
Missense
Missense
SNP
SNP
SNP
0.574
0.560
0.478
2--
CNTNAP5p.P505S
Missense
SNP
0.569
2--
CNTRL-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA3-
-
-
-
4Gain-
COA4-
-
-
-
1Loss-
COA6-
-
-
-
1Loss-
COASY-
-
-
-
4Gain-
COBL-
-
-
-
3Gain-
COCH-
-
-
-
3Gain-
COG1-
-
-
-
4Gain-
COG3-
-
-
-
3Gain-
COG5p.L213F
Missense
SNP
0.280
3Gain-
COG6p.E106K
Missense
SNP
0.608
2--
COIL-
-
-
-
4Gain-
COL11A1p.P896L
Missense
SNP
0.565
2--
COL12A1p.P2775L
Missense
SNP
0.488
2--
COL13A1-
-
-
-
3Gain-
COL14A1p.E839K
p.G1702E
Missense
Missense
SNP
SNP
0.500
0.416
2--
COL15A1-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL19A1p.G869E
Missense
SNP
0.469
2--
COL1A1-
-
-
-
4Gain-
COL1A2-
-
-
-
3Gain-
COL22A1p.G741E
p.G514R
Missense
Missense
SNP
SNP
0.453
0.449
2--
COL23A1-
-
-
-
3Gain-
COL25A1p.P502S
Missense
SNP
0.448
2--
COL26A1-
-
-
-
3Gain-
COL27A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL3A1p.R1024*
Nonsense
SNP
0.462
2--
COL4A1p.P623S
Missense
SNP
0.620
2--
COL4A3p.P273S
p.G643S
Missense
Missense
SNP
SNP
0.483
0.241
2--
COL4A3BP-
-
-
-
1Loss-
COL4A4p.P635S
p.G173E
Missense
Missense
SNP
SNP
0.550
0.489
2--
COL4A5p.P272S
Missense
SNP
1.000
NDND-
COL5A1p.E1382K
Missense
SNP
1.000
1Loss-
COL5A3p.S453F
Missense
SNP
0.964
2--
COL6A3p.R2202Q
p.P1426L
Missense
Missense
SNP
SNP
0.446
0.565
2--
COL6A5p.R1430Q
Missense
SNP
0.435
2--
COL7A1p.V222M
Missense
SNP
0.500
2--
COL8A1p.G241R
Missense
SNP
0.529
2--
COLCA2-
-
-
-
1Loss-
COMMD10-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD4-
-
-
-
3Gain-
COMMD9-
-
-
-
1Loss-
COMT-
-
-
-
3Gain-
COMTD1-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPRS-
-
-
-
4Gain-
COPS2-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPZ2-
-
-
-
4Gain-
COQ4-
-
-
-
1Loss-
COQ6-
-
-
-
3Gain-
COQ8A-
-
-
-
1Loss-
CORINp.S565L
p.M464I
p.D297N
Missense
Missense
Missense
SNP
SNP
SNP
0.524
0.434
0.543
2--
CORO1B-
-
-
-
1Loss-
CORO2A-
-
-
-
1Loss-
CORO2B-
-
-
-
3Gain-
CORO6-
-
-
-
4Gain-
COX11-
-
-
-
4Gain-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX5A-
-
-
-
3Gain-
COX7C-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
COX8C-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPD-
-
-
-
4Gain-
CPEB1-
-
-
-
3Gain-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
1Loss-
CPLX2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPN1-
-
-
-
1Loss-
CPNE6-
-
-
-
3Gain-
CPS1p.S1269F
Missense
SNP
0.467
2--
CPSF2-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPSF4L-
-
-
-
4Gain-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1p.E691K
Missense
SNP
0.474
2--
CPXM2-
-
-
-
1Loss-
CRABP1-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRAMP1p.S490F
Missense
SNP
0.520
2--
CRAT-
-
-
-
1Loss-
CRB1p.L1359F
Missense
SNP
0.487
2--
CRB2-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBRF-
-
-
-
3Gain-
CREBZF-
-
-
-
1Loss-
CRELD2-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRHR1-
-
-
-
4Gain-
CRHR2-
-
-
-
3Gain-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRKL-
-
-
-
3Gain-
CRLF3-
-
-
-
4Gain-
CROT-
-
-
-
3Gain-
CRPp.P105S
Missense
SNP
0.501
2--
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTC3-
-
-
-
3Gain-
CRY2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA1-
-
-
-
4Gain-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CSDC2-
-
-
-
3Gain-
CSF1R-
-
-
-
3Gain-
CSF2-
-
-
-
3Gain-
CSF2RB-
-
-
-
3Gain-
CSF3-
-
-
-
4Gain-
CSGALNACT2-
-
-
-
3Gain-
CSH1-
-
-
-
4Gain-
CSH2-
-
-
-
4Gain-
CSHL1-
-
-
-
4Gain-
CSK-
-
-
-
3Gain-
CSKMT-
-
-
-
1Loss-
CSMD1p.S981F
Missense
SNP
0.463
2--
CSMD2p.G1983S
Missense
SNP
0.496
2--
CSMD3p.G3159E
p.P3150S
p.G1948E
p.G1647E
p.E610K
p.P258S
p.S120L
p.G71E
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.497
0.498
0.514
0.452
0.482
0.444
0.606
0.477
2--
CSNK1A1-
-
-
-
3Gain-
CSNK1D-
-
-
-
4Gain-
CSNK1E-
-
-
-
3Gain-
CSNK1G1p.R291*
Nonsense
SNP
0.614
3Gain-
CSNK1G3-
-
-
-
3Gain-
CSNK2A3-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSRP3-
-
-
-
1Loss-
CST6-
-
-
-
1Loss-
CSTF2T-
-
-
-
3Gain-
CSTF3-
-
-
-
1Loss-
CT62-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBP2-
-
-
-
1Loss-
CTDSPL2-
-
-
-
3Gain-
CTNNA1-
-
-
-
3Gain-
CTNNA3p.E642K
Missense
SNP
0.654
3Gain-
CTNNAL1-
-
-
-
1Loss-
CTNND1p.Q333*
Nonsense
SNP
1.000
1Loss-
CTNND2-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSF-
-
-
-
1Loss-
CTSG-
-
-
-
3Gain-
CTSH-
-
-
-
3Gain-
CTSL-
-
-
-
1Loss-
CTSOp.S73F
Missense
SNP
0.511
2--
CTSV-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTXN2-
-
-
-
3Gain-
CTXN3-
-
-
-
3Gain-
CUBN-
-
-
-
3Gain-
CUEDC1-
-
-
-
4Gain-
CUEDC2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUX2p.E1199K
Missense
SNP
0.509
2--
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC25-
-
-
-
4Gain-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CX3CR1p.T174I
Missense
SNP
0.527
2--
CXCL12-
-
-
-
3Gain-
CXCL14-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CXorf58p.F113V
Missense
SNP
1.000
NDND-
CXXC5-
-
-
-
3Gain-
CYB561-
-
-
-
4Gain-
CYB561A3-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3p.S198F
Missense
SNP
0.268
3Gain-
CYBC1-
-
-
-
4Gain-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
3Gain-
CYFIP2-
-
-
-
3Gain-
CYGB-
-
-
-
4Gain-
CYLC2-
-
-
-
1Loss-
CYP11A1-
-
-
-
3Gain-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
3Gain-
CYP4A11p.S498F
Missense
SNP
0.529
2--
CYP4A22p.R143*
Nonsense
SNP
0.455
2--
CYP4F2p.E477K
Missense
SNP
1.000
2--
CYP4F8p.D373N
Missense
SNP
0.970
2--
CYP51A1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSLTR2-
-
-
-
3Gain-
CYSRT1-
-
-
-
1Loss-
CYSTM1-
-
-
-
3Gain-
CYTH1-
-
-
-
4Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
DAAM1-
-
-
-
3Gain-
DAB2-
-
-
-
1Loss-
DAB2IP-
-
-
-
1Loss-
DACH1-
-
-
-
3Gain-
DACT1-
-
-
-
3Gain-
DACT2p.E594K
Missense
SNP
0.424
2--
DAD1-
-
-
-
3Gain-
DAGLA-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DAP-
-
-
-
1Loss-
DAPK1-
-
-
-
1Loss-
DAPK2-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBF4B-
-
-
-
4Gain-
DBH-
-
-
-
1Loss-
DBN1-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DBX2p.D215N
Missense
SNP
0.500
2--
DCAF11-
-
-
-
3Gain-
DCAF4-
-
-
-
3Gain-
DCAF5-
-
-
-
3Gain-
DCAF7-
-
-
-
4Gain-
DCAKD-
-
-
-
4Gain-
DCANP1-
-
-
-
3Gain-
DCBLD1p.S272L
Missense
SNP
0.477
2--
DCCp.D1424N
Missense
SNP
0.555
2--
DCDC1-
-
-
-
1Loss-
DCHS1p.A3248T
Missense
SNP
0.993
1Loss-
DCLK2p.R275C
Missense
SNP
0.506
2--
DCLK3p.E614K
Missense
SNP
0.482
2--
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCNp.V178I
Missense
SNP
0.412
2--
DCP2-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCTN4-
-
-
-
3Gain-
DCUN1D5-
-
-
-
1Loss-
DCXR-
-
-
-
4Gain-
DDB1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDHD1-
-
-
-
3Gain-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDIT4-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX17-
-
-
-
3Gain-
DDX21-
-
-
-
3Gain-
DDX24-
-
-
-
3Gain-
DDX25-
-
-
-
1Loss-
DDX31-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
3Gain-
DDX42-
-
-
-
4Gain-
DDX46-
-
-
-
3Gain-
DDX5-
-
-
-
4Gain-
DDX50-
-
-
-
3Gain-
DDX52-
-
-
-
4Gain-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
1Loss-
DDX6-
-
-
-
1Loss-
DEAF1p.P169S
Missense
SNP
1.000
1Loss-
DEC1-
-
-
-
1Loss-
DEGS2-
-
-
-
3Gain-
DELE1-
-
-
-
3Gain-
DENND1A-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND6B-
-
-
-
3Gain-
DEPDC1B-
-
-
-
1Loss-
DEPDC5-
-
-
-
3Gain-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
3Gain-
DERL3-
-
-
-
3Gain-
DESI1-
-
-
-
3Gain-
DET1p.S203F
Missense
SNP
0.395
3Gain-
DEUP1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKBp.G670E
Missense
SNP
0.278
3Gain-
DGKE-
-
-
-
4Gain-
DGKIp.S674F
Missense
SNP
0.256
3Gain-
DGKKp.R543C
Missense
SNP
1.000
NDND-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
3Gain-
DHCR7-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHRS1-
-
-
-
3Gain-
DHRS11-
-
-
-
4Gain-
DHRS13-
-
-
-
4Gain-
DHRS2-
-
-
-
3Gain-
DHRS4-
-
-
-
3Gain-
DHRS4L2-
-
-
-
3Gain-
DHRS7-
-
-
-
3Gain-
DHTKD1-
-
-
-
3Gain-
DHX29-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX40-
-
-
-
4Gain-
DHX58-
-
-
-
4Gain-
DHX8-
-
-
-
4Gain-
DIAPH1p.R219C
Missense
SNP
0.631
3Gain-
DIAPH2p.H168Y
Missense
SNP
1.000
NDND-
DICER1-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
3Gain-
DIO3-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DIRAS2-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
1Loss-
DISP2-
-
-
-
3Gain-
DIXDC1-
-
-
-
1Loss-
DKK1-
-
-
-
3Gain-
DKK3-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLEC1p.M1430I
Missense
SNP
0.511
2--
DLEU7-
-
-
-
3Gain-
DLG2-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP2p.P769S
Missense
SNP
0.508
2--
DLGAP5-
-
-
-
3Gain-
DLK1-
-
-
-
3Gain-
DLL4-
-
-
-
3Gain-
DLST-
-
-
-
3Gain-
DLX3-
-
-
-
4Gain-
DLX4-
-
-
-
4Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMC1-
-
-
-
3Gain-
DMGDHp.E303K
Missense
SNP
1.000
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMXL1p.L1772F
Missense
SNP
0.393
3Gain-
DMXL2p.S239L
Missense
SNP
0.611
3Gain-
DNA2-
-
-
-
3Gain-
DNAAF2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH10p.D3337N
Missense
SNP
0.504
2--
DNAH11p.S2921N
Missense
SNP
0.372
3Gain-
DNAH12p.G1916E
p.R1230C
Missense
Missense
SNP
SNP
0.512
0.420
2--
DNAH14-
-
-
-
1Loss-
DNAH17p.M950I
Missense
SNP
0.484
4Gain-
DNAH3p.E2755K
p.T1408I
Missense
Missense
SNP
SNP
0.526
0.431
2--
DNAH5p.G2649E
p.P1723L
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
DNAH7p.G2341E
p.L1990F
Missense
Missense
SNP
SNP
0.477
0.486
2--
DNAH8p.G3662R
p.P4261L
Missense
Missense
SNP
SNP
0.433
0.447
2--
DNAH9p.E2368K
Missense
SNP
1.000
2--
DNAI2-
-
-
-
4Gain-
DNAJA1-
-
-
-
1Loss-
DNAJA4-
-
-
-
3Gain-
DNAJB12-
-
-
-
3Gain-
DNAJB13-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC12-
-
-
-
3Gain-
DNAJC17-
-
-
-
3Gain-
DNAJC18p.P185S
Missense
SNP
0.667
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC25-
-
-
-
1Loss-
DNAJC25-GNG10-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC4-
-
-
-
1Loss-
DNAJC7-
-
-
-
4Gain-
DNAJC9-
-
-
-
3Gain-
DNAL1-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DND1-
-
-
-
3Gain-
DNHD1-
-
-
-
1Loss-
DNLZ-
-
-
-
1Loss-
DNM1-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT3Lp.D78N
Missense
SNP
1.000
2--
DNTT-
-
-
-
1Loss-
DNTTIP2p.R749*
Nonsense
SNP
0.483
2--
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
3Gain-
DOCK3p.S238F
p.R385C
Missense
Missense
SNP
SNP
0.494
0.513
2--
DOCK4p.P1327S
Missense
SNP
0.693
3Gain-
DOK3-
-
-
-
3Gain-
DOLK-
-
-
-
1Loss-
DOLPP1-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPF3-
-
-
-
3Gain-
DPH6-
-
-
-
3Gain-
DPH7-
-
-
-
1Loss-
DPM2-
-
-
-
1Loss-
DPP10p.G27E
Missense
SNP
0.562
2--
DPP3-
-
-
-
1Loss-
DPP6-
-
-
-
3Gain-
DPP7-
-
-
-
1Loss-
DPP8p.P594S
Missense
SNP
0.633
3Gain-
DPPA2p.M165I
Missense
SNP
0.560
2--
DPY19L1-
-
-
-
3Gain-
DPYSL3-
-
-
-
3Gain-
DPYSL4-
-
-
-
1Loss-
DPYSL5p.M43I
Missense
SNP
0.492
2--
DRAP1-
-
-
-
1Loss-
DRD1-
-
-
-
3Gain-
DRD2-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRGX-
-
-
-
3Gain-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
1Loss-
DSCAMp.G813D
Missense
SNP
1.000
2--
DSCAML1-
-
-
-
1Loss-
DSELp.S1033L
Missense
SNP
0.543
2--
DSG2p.E446K
Missense
SNP
0.514
2--
DSG3p.E119K
Missense
SNP
0.511
2--
DSPPp.E255K
Missense
SNP
0.547
2--
DTD2-
-
-
-
3Gain-
DTWD1-
-
-
-
3Gain-
DTWD2-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX4-
-
-
-
1Loss-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUPD1-
-
-
-
3Gain-
DUS1L-
-
-
-
4Gain-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
3Gain-
DUSP13-
-
-
-
3Gain-
DUSP14-
-
-
-
4Gain-
DUSP18-
-
-
-
3Gain-
DUSP3-
-
-
-
4Gain-
DUSP5-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYNC1H1-
-
-
-
3Gain-
DYNC1I1p.E200K
Missense
SNP
0.249
3Gain-
DYNC2H1-
-
-
-
1Loss-
DYNLL2-
-
-
-
4Gain-
DYRK4p.P28S
Missense
SNP
0.394
2--
DYTNp.D413Y
Missense
SNP
0.449
2--
E2F8-
-
-
-
1Loss-
EAPP-
-
-
-
3Gain-
EBF1-
-
-
-
3Gain-
EBF2p.Q195*
Nonsense
SNP
0.541
2--
EBF3-
-
-
-
1Loss-
EBLN1-
-
-
-
3Gain-
EBPL-
-
-
-
3Gain-
ECD-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECM2-
-
-
-
1Loss-
ECPAS-
-
-
-
1Loss-
ECSCR-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDF1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
3Gain-
EFCAB13-
-
-
-
4Gain-
EFCAB3-
-
-
-
4Gain-
EFCAB5p.H476Y
Missense
SNP
0.542
4Gain-
EFCAB6-
-
-
-
3Gain-
EFCAB9-
-
-
-
3Gain-
EFEMP2-
-
-
-
1Loss-
EFHC2p.E214K
Missense
SNP
1.000
NDND-
EFL1-
-
-
-
3Gain-
EFNA5-
-
-
-
3Gain-
EFR3Ap.S370F
Missense
SNP
0.494
2--
EFS-
-
-
-
3Gain-
EFTUD2-
-
-
-
4Gain-
EGFL7-
-
-
-
1Loss-
EGFLAM-
-
-
-
1Loss-
EGFR-
-
-
-
3Gain-
EGLN3-
-
-
-
3Gain-
EGR1-
-
-
-
3Gain-
EGR2-
-
-
-
3Gain-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD4-
-
-
-
3Gain-
EHF-
-
-
-
1Loss-
EHMT1-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
3Gain-
EIF1-
-
-
-
4Gain-
EIF1AD-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK4-
-
-
-
3Gain-
EIF2B2-
-
-
-
3Gain-
EIF2S1-
-
-
-
3Gain-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3J-
-
-
-
3Gain-
EIF3L-
-
-
-
3Gain-
EIF3M-
-
-
-
1Loss-
EIF4A3-
-
-
-
4Gain-
EIF4E1B-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
3Gain-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G2-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
3Gain-
EIF5AL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
3Gain-
ELK4p.P401S
Missense
SNP
0.449
2--
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELMOD1-
-
-
-
1Loss-
ELMSAN1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELSPBP1p.R172K
Missense
SNP
0.990
2--
EMB-
-
-
-
1Loss-
EMC4-
-
-
-
3Gain-
EMC7-
-
-
-
3Gain-
EMC9-
-
-
-
3Gain-
EME1-
-
-
-
4Gain-
EMID1-
-
-
-
3Gain-
EMILIN2p.E312K
Missense
SNP
0.447
2--
EMILIN3p.G575E
Missense
SNP
0.511
2--
EML1-
-
-
-
3Gain-
EML3-
-
-
-
1Loss-
EML5-
-
-
-
3Gain-
EML6p.R1335K
Missense
SNP
0.513
2--
EMSY-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENDOG-
-
-
-
1Loss-
ENDOV-
-
-
-
4Gain-
ENG-
-
-
-
1Loss-
ENGASE-
-
-
-
4Gain-
ENKUR-
-
-
-
3Gain-
ENO4-
-
-
-
1Loss-
ENPP1p.P797L
Missense
SNP
0.561
2--
ENPP2p.E870K
Missense
SNP
0.355
2--
ENPP7-
-
-
-
4Gain-
ENTHD1-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD2-
-
-
-
1Loss-
ENTPD5-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
ENTPD8-
-
-
-
1Loss-
ENTR1-
-
-
-
1Loss-
EP300-
-
-
-
3Gain-
EP400p.P2881S
Missense
SNP
0.459
2--
EPB41L1p.R827Q
Missense
SNP
0.473
2--
EPB41L4A-
-
-
-
3Gain-
EPB41L4B-
-
-
-
1Loss-
EPB42p.G216R
Missense
SNP
0.353
3Gain-
EPC1-
-
-
-
3Gain-
EPCAMp.H227Y
Missense
SNP
0.542
2--
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA4p.S361F
Missense
SNP
0.511
2--
EPHB1p.R222W
Missense
SNP
0.463
2--
EPHB2p.E612K
Missense
SNP
0.531
2--
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
1Loss-
EPN3-
-
-
-
4Gain-
EPO-
-
-
-
3Gain-
EPOP-
-
-
-
4Gain-
EPPK1p.E2209K
Missense
SNP
0.496
2--
EPRSp.H1243Y
Missense
SNP
1.000
1Loss-
EPS8L2-
-
-
-
1Loss-
EPX-
-
-
-
4Gain-
EQTN-
-
-
-
1Loss-
ERAL1-
-
-
-
4Gain-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB2-
-
-
-
4Gain-
ERBIN-
-
-
-
1Loss-
ERCC6p.R612*
Nonsense
SNP
0.672
3Gain-
ERCC6L2-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERG28-
-
-
-
3Gain-
ERGIC1-
-
-
-
3Gain-
ERH-
-
-
-
3Gain-
ERICH6B-
-
-
-
3Gain-
ERLIN1-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN1-
-
-
-
4Gain-
ERN2p.H161Y
Missense
SNP
0.514
2--
ERO1A-
-
-
-
3Gain-
ERP44-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESR2-
-
-
-
3Gain-
ESRRA-
-
-
-
1Loss-
ESRRB-
-
-
-
3Gain-
ESRRG-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
3Gain-
ETFA-
-
-
-
3Gain-
ETNPPLp.S214F
Missense
SNP
0.531
2--
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV4-
-
-
-
4Gain-
ETV7p.P341S
Missense
SNP
0.516
2--
EVI2A-
-
-
-
4Gain-
EVI2B-
-
-
-
4Gain-
EVL-
-
-
-
3Gain-
EVPL-
-
-
-
4Gain-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
3Gain-
EXD1-
-
-
-
3Gain-
EXD2-
-
-
-
3Gain-
EXD3-
-
-
-
1Loss-
EXOC3-
-
-
-
1Loss-
EXOC3L4-
-
-
-
3Gain-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
3Gain-
EXOC6-
-
-
-
1Loss-
EXOC6Bp.D204N
Missense
SNP
0.503
2--
EXOC7-
-
-
-
4Gain-
EXOSC1-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXT2-
-
-
-
1Loss-
EYSp.R2242H
Missense
SNP
0.394
2--
EZH1-
-
-
-
4Gain-
EZH2-
-
-
-
3Gain-
F11p.S250F
Missense
SNP
0.524
2--
F12-
-
-
-
3Gain-
F13A1p.R253K
Missense
SNP
0.440
2--
F2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F5p.S1434N
p.R712C
Missense
Missense
SNP
SNP
0.429
0.407
2--
F7p.E325K
Missense
SNP
0.631
2--
F9p.R298Q
Missense
SNP
1.000
NDND-
FAAH2p.R232*
Nonsense
SNP
1.000
NDND-
FAAP100-
-
-
-
4Gain-
FABP6-
-
-
-
3Gain-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FADS6-
-
-
-
4Gain-
FAF2-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAM102A-
-
-
-
1Loss-
FAM104A-
-
-
-
4Gain-
FAM105Ap.E275K
Missense
SNP
1.000
NDND-
FAM107B-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A2-
-
-
-
3Gain-
FAM117A-
-
-
-
4Gain-
FAM118A-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM120A-
-
-
-
1Loss-
FAM120AOS-
-
-
-
1Loss-
FAM122A-
-
-
-
1Loss-
FAM124A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129Ap.E743K
Missense
SNP
0.521
2--
FAM129B-
-
-
-
1Loss-
FAM129Cp.E7K
Missense
SNP
0.978
2--
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM134Ap.P471L
Missense
SNP
0.428
NDND-
FAM135Bp.M1345I
p.E1100K
Missense
Missense
SNP
SNP
0.470
0.535
2--
FAM13B-
-
-
-
3Gain-
FAM13C-
-
-
-
3Gain-
FAM149B1-
-
-
-
3Gain-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM161B-
-
-
-
3Gain-
FAM163B-
-
-
-
1Loss-
FAM166A-
-
-
-
1Loss-
FAM168A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
3Gain-
FAM170Ap.D201N
Missense
SNP
0.313
3Gain-
FAM170B-
-
-
-
3Gain-
FAM171A1p.L324F
Missense
SNP
0.671
3Gain-
FAM171A2-
-
-
-
4Gain-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM177A1-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
3Gain-
FAM181B-
-
-
-
1Loss-
FAM184Bp.E230K
Missense
SNP
0.502
2--
FAM185A-
-
-
-
3Gain-
FAM187A-
-
-
-
4Gain-
FAM189A1-
-
-
-
3Gain-
FAM189A2-
-
-
-
1Loss-
FAM193B-
-
-
-
3Gain-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM204A-
-
-
-
1Loss-
FAM206A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM209Bp.R96C
Missense
SNP
0.565
2--
FAM20A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM219Bp.P116A
Missense
SNP
0.407
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM222B-
-
-
-
4Gain-
FAM227A-
-
-
-
3Gain-
FAM227B-
-
-
-
3Gain-
FAM241B-
-
-
-
3Gain-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM45A-
-
-
-
1Loss-
FAM46Dp.S198F
Missense
SNP
1.000
NDND-
FAM47Ap.W705*
Nonsense
SNP
1.000
NDND-
FAM47Cp.R795G
Missense
SNP
1.000
NDND-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
3Gain-
FAM58Ap.Q187*
Nonsense
SNP
1.000
NDND-
FAM65Cp.E908K
Missense
SNP
0.513
NDND-
FAM69B-
-
-
-
1Loss-
FAM71Ap.R412Q
Missense
SNP
0.481
2--
FAM71Bp.R111C
Missense
SNP
0.630
3Gain-
FAM71D-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM73Ap.H111Y
Missense
SNP
0.358
NDND-
FAM76B-
-
-
-
1Loss-
FAM78A-
-
-
-
1Loss-
FAM81A-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83Bp.S429L
p.E555K
Missense
Missense
SNP
SNP
0.447
0.443
2--
FAM83F-
-
-
-
3Gain-
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCC-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCI-
-
-
-
3Gain-
FANCM-
-
-
-
3Gain-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASN-
-
-
-
4Gain-
FASTK-
-
-
-
3Gain-
FASTKD3-
-
-
-
1Loss-
FAT2-
-
-
-
3Gain-
FAT3p.E457K
Missense
SNP
0.989
1Loss-
FAT4p.D2046N
p.S2053F
p.R3342Q
p.S3495F
p.S3885L
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.467
0.479
0.571
0.468
0.540
2--
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
3Gain-
FBF1-
-
-
-
4Gain-
FBH1-
-
-
-
3Gain-
FBLL1-
-
-
-
3Gain-
FBLN1-
-
-
-
3Gain-
FBLN5-
-
-
-
3Gain-
FBN1-
-
-
-
3Gain-
FBN2p.G1713E
p.D1063N
Missense
Missense
SNP
SNP
0.288
0.651
3Gain-
FBP1-
-
-
-
1Loss-
FBP2-
-
-
-
1Loss-
FBRSL1p.P746S
Missense
SNP
0.473
2--
FBXL13-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL17-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL20-
-
-
-
4Gain-
FBXL22-
-
-
-
3Gain-
FBXL7-
-
-
-
1Loss-
FBXO22p.P350S
Missense
SNP
0.660
3Gain-
FBXO24p.G72E
Missense
SNP
0.675
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO33-
-
-
-
3Gain-
FBXO34-
-
-
-
3Gain-
FBXO38-
-
-
-
3Gain-
FBXO4-
-
-
-
1Loss-
FBXO47-
-
-
-
4Gain-
FBXO7-
-
-
-
3Gain-
FBXW11-
-
-
-
3Gain-
FBXW2-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW5-
-
-
-
1Loss-
FCF1-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
3Gain-
FCHSD2-
-
-
-
1Loss-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FDCSPp.E84K
Missense
SNP
0.570
2--
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
4Gain-
FEM1B-
-
-
-
3Gain-
FEM1C-
-
-
-
3Gain-
FEN1-
-
-
-
1Loss-
FER-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FERMT2-
-
-
-
3Gain-
FERMT3-
-
-
-
1Loss-
FES-
-
-
-
3Gain-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FFAR4-
-
-
-
1Loss-
FGD3-
-
-
-
1Loss-
FGD5p.P530L
Missense
SNP
0.529
2--
FGF1-
-
-
-
3Gain-
FGF10-
-
-
-
1Loss-
FGF18-
-
-
-
3Gain-
FGF19-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF7-
-
-
-
3Gain-
FGF8-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR4-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FHL5p.G120E
Missense
SNP
0.516
2--
FIBCD1-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FILIP1p.G538E
Missense
SNP
0.500
2--
FIS1-
-
-
-
3Gain-
FITM1-
-
-
-
3Gain-
FJX1-
-
-
-
1Loss-
FKBP10-
-
-
-
4Gain-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP3-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKTN-
-
-
-
1Loss-
FLGp.D2520N
p.E1563K
p.D411N
p.E218K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.475
0.495
0.484
0.492
2--
FLI1p.G429R
Missense
SNP
0.973
1Loss-
FLNCp.R2141Q
Missense
SNP
0.732
3Gain-
FLOT2-
-
-
-
4Gain-
FLRT1-
-
-
-
1Loss-
FLRT2-
-
-
-
5Amp-
FLT1p.E65K
Missense
SNP
0.622
2--
FLT4p.S239L
Missense
SNP
0.357
3Gain-
FLVCR2-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
3Gain-
FMNL1-
-
-
-
4Gain-
FN3K-
-
-
-
4Gain-
FN3KRP-
-
-
-
4Gain-
FNBP1-
-
-
-
1Loss-
FNBP4-
-
-
-
1Loss-
FNDC3A-
-
-
-
3Gain-
FNDC8-
-
-
-
4Gain-
FNDC9-
-
-
-
3Gain-
FNIP1-
-
-
-
3Gain-
FNTB-
-
-
-
3Gain-
FO681492.1-
-
-
-
3Gain-
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOS-
-
-
-
3Gain-
FOSL1-
-
-
-
1Loss-
FOXA1-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXB2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXE1-
-
-
-
1Loss-
FOXG1-
-
-
-
4Gain-
FOXI1-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXJ1-
-
-
-
4Gain-
FOXK1-
-
-
-
3Gain-
FOXK2-
-
-
-
4Gain-
FOXN1p.D313N
Missense
SNP
0.435
4Gain-
FOXN3-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FPGS-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAS1p.G3143E
p.D3442N
Missense
Missense
SNP
SNP
0.431
0.462
2--
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM1p.D1408N
Missense
SNP
1.000
1Loss-
FREM2p.P91S
p.P1233S
p.G1428R
Missense
Missense
Missense
SNP
SNP
SNP
0.362
0.362
0.301
2--
FRG2B-
-
-
-
1Loss-
FRMD3-
-
-
-
1Loss-
FRMD4A-
-
-
-
3Gain-
FRMD5-
-
-
-
3Gain-
FRMD6-
-
-
-
3Gain-
FRMD8-
-
-
-
1Loss-
FRMPD2-
-
-
-
3Gain-
FRMPD3p.E621K
Missense
SNP
1.000
NDND-
FRRS1L-
-
-
-
1Loss-
FRYp.E2916K
Missense
SNP
0.611
2--
FRYLp.P2057S
Missense
SNP
0.504
2--
FSCB-
-
-
-
5Amp-
FSCN1-
-
-
-
3Gain-
FSCN2-
-
-
-
4Gain-
FSCN3-
-
-
-
3Gain-
FSD1L-
-
-
-
1Loss-
FSD2-
-
-
-
3Gain-
FSHB-
-
-
-
1Loss-
FSHRp.E466K
p.H139L
Missense
Missense
SNP
SNP
0.493
0.411
2--
FSIP1p.S338F
Missense
SNP
0.563
3Gain-
FSIP2p.P6284S
Missense
SNP
0.433
2--
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
3Gain-
FTH1-
-
-
-
1Loss-
FTMT-
-
-
-
3Gain-
FTSJ3-
-
-
-
4Gain-
FUBP3-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUT11-
-
-
-
3Gain-
FUT4-
-
-
-
1Loss-
FUT7-
-
-
-
1Loss-
FUT8-
-
-
-
3Gain-
FUT9p.G7E
Missense
SNP
0.449
2--
FXN-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD4-
-
-
-
3Gain-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYBp.P163S
Missense
SNP
1.000
NDND-
FYB1-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
FZD10p.E379K
Missense
SNP
0.485
2--
FZD2-
-
-
-
4Gain-
FZD4-
-
-
-
1Loss-
FZD8-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
G2E3-
-
-
-
3Gain-
G3BP1-
-
-
-
3Gain-
G6PC-
-
-
-
4Gain-
G6PC3-
-
-
-
4Gain-
GAA-
-
-
-
4Gain-
GAB2-
-
-
-
1Loss-
GABBR2-
-
-
-
1Loss-
GABPB1-
-
-
-
3Gain-
GABRA1-
-
-
-
3Gain-
GABRA3p.G177E
Missense
SNP
1.000
NDND-
GABRA5-
-
-
-
3Gain-
GABRA6p.H369Y
Missense
SNP
0.340
3Gain-
GABRB2-
-
-
-
3Gain-
GABRB3-
-
-
-
3Gain-
GABRG2-
-
-
-
3Gain-
GABRG3-
-
-
-
3Gain-
GABRP-
-
-
-
3Gain-
GABRR1p.E223K
Missense
SNP
0.515
2--
GAD2-
-
-
-
3Gain-
GADD45G-
-
-
-
1Loss-
GALp.E30K
Missense
SNP
0.967
1Loss-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
3Gain-
GALK1-
-
-
-
4Gain-
GALK2-
-
-
-
3Gain-
GALNT10-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT12-
-
-
-
1Loss-
GALNT13p.H124Y
Missense
SNP
0.452
2--
GALNT16-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT18-
-
-
-
1Loss-
GALNT5p.D689N
Missense
SNP
0.387
2--
GALNTL5-
-
-
-
3Gain-
GALR2p.S120F
Missense
SNP
0.495
4Gain-
GALR3-
-
-
-
3Gain-
GANAB-
-
-
-
1Loss-
GANC-
-
-
-
3Gain-
GAPDH-
-
-
-
2-GAPDHP17--GAPDH
GAPDHP17-
-
-
-
NDNDGAPDHP17--GAPDH
GAPTp.G105E
Missense
SNP
1.000
1Loss-
GAPVD1-
-
-
-
1Loss-
GARNL3-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS1-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
3Gain-
GAS2L2-
-
-
-
4Gain-
GAST-
-
-
-
4Gain-
GATA3-
-
-
-
5Amp-
GATAD1-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATM-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GBP1p.G132E
Missense
SNP
0.466
2--
GBP6p.G293E
Missense
SNP
0.517
2--
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCGR-
-
-
-
4Gain-
GCH1-
-
-
-
3Gain-
GCHFR-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCM2p.D294N
Missense
SNP
0.488
2--
GCNT1-
-
-
-
1Loss-
GCNT3-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCOM1-
-
-
-
3Gain-
GDA-
-
-
-
1Loss-
GDF10-
-
-
-
3Gain-
GDF2-
-
-
-
3Gain-
GDF9-
-
-
-
3Gain-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
1Loss-
GDPD1-
-
-
-
4Gain-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GDPGP1-
-
-
-
3Gain-
GEMIN2-
-
-
-
3Gain-
GEMIN5-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFAP-
-
-
-
4Gain-
GFI1B-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFPT2-
-
-
-
3Gain-
GFRA1-
-
-
-
1Loss-
GFRA3-
-
-
-
3Gain-
GGA1-
-
-
-
3Gain-
GGA3-
-
-
-
4Gain-
GGCT-
-
-
-
3Gain-
GGNBP2-
-
-
-
4Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGTLC2-
-
-
-
3Gain-
GH1-
-
-
-
4Gain-
GH2-
-
-
-
4Gain-
GHDC-
-
-
-
4Gain-
GHITM-
-
-
-
1Loss-
GHRp.H336Y
Missense
SNP
1.000
1Loss-
GHRHR-
-
-
-
3Gain-
GIF-
-
-
-
1Loss-
GIGYF1-
-
-
-
3Gain-
GIMAP1p.V243M
Missense
SNP
0.239
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GIP-
-
-
-
4Gain-
GIPC2p.E288K
Missense
SNP
0.446
2--
GIT1-
-
-
-
4Gain-
GJA10p.L178F
p.D525N
Missense
Missense
SNP
SNP
0.490
0.537
2--
GJA9p.D67N
Missense
SNP
0.569
2--
GJC1-
-
-
-
4Gain-
GJC2-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
3Gain-
GJD3-
-
-
-
4Gain-
GJD4-
-
-
-
3Gain-
GKAP1-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
3Gain-
GLE1-
-
-
-
1Loss-
GLI2p.S580F
p.S1426L
Missense
Missense
SNP
SNP
0.465
0.494
2--
GLI3-
-
-
-
3Gain-
GLIS1p.G111E
Missense
SNP
0.401
2--
GLIS3-
-
-
-
1Loss-
GLRA1-
-
-
-
3Gain-
GLRA3p.E136K
Missense
SNP
0.452
2--
GLRBp.R212Q
p.P482S
Missense
Missense
SNP
SNP
0.480
0.495
2--
GLRX-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
3Gain-
GLT6D1-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1p.W323*
Nonsense
SNP
1.000
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GM2A-
-
-
-
3Gain-
GMCL2-
-
-
-
3Gain-
GMEB2p.M305I
Missense
SNP
0.473
2--
GMFB-
-
-
-
3Gain-
GMPR2-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA13-
-
-
-
4Gain-
GNA14-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAQ-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB5-
-
-
-
3Gain-
GNG10-
-
-
-
1Loss-
GNG11-
-
-
-
3Gain-
GNG2-
-
-
-
3Gain-
GNG3-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNGT2-
-
-
-
4Gain-
GNPDA1-
-
-
-
3Gain-
GNPNAT1-
-
-
-
3Gain-
GOLGA1-
-
-
-
1Loss-
GOLGA2-
-
-
-
1Loss-
GOLGA5-
-
-
-
3Gain-
GOLGA6B-
-
-
-
3Gain-
GOLGA6Dp.G672S
Missense
SNP
0.419
NDND-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
3Gain-
GOLGA8B-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8R-
-
-
-
3Gain-
GOLGA8S-
-
-
-
3Gain-
GOLM1-
-
-
-
1Loss-
GOLPH3-
-
-
-
1Loss-
GON7-
-
-
-
3Gain-
GOSR1-
-
-
-
4Gain-
GOSR2-
-
-
-
4Gain-
GOT1-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPAM-
-
-
-
1Loss-
GPATCH2-
-
-
-
1Loss-
GPATCH2L-
-
-
-
3Gain-
GPATCH8-
-
-
-
4Gain-
GPBP1-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD2p.F293L
Missense
SNP
0.453
2--
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPHB5-
-
-
-
3Gain-
GPHN-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR107-
-
-
-
1Loss-
GPR132-
-
-
-
3Gain-
GPR135-
-
-
-
3Gain-
GPR137-
-
-
-
1Loss-
GPR137C-
-
-
-
3Gain-
GPR139p.R217C
Missense
SNP
0.493
2--
GPR141-
-
-
-
3Gain-
GPR142-
-
-
-
4Gain-
GPR146-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
3Gain-
GPR152-
-
-
-
1Loss-
GPR158p.E772K
Missense
SNP
0.331
3Gain-
GPR176-
-
-
-
3Gain-
GPR179-
-
-
-
4Gain-
GPR21-
-
-
-
1Loss-
GPR22-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR33-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR65-
-
-
-
3Gain-
GPR68-
-
-
-
3Gain-
GPR83-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPRC5Cp.R226W
Missense
SNP
0.496
4Gain-
GPRC6Ap.P692S
p.R222Q
Missense
Missense
SNP
SNP
0.440
0.497
2--
GPRIN1-
-
-
-
3Gain-
GPRIN2-
-
-
-
3Gain-
GPS1-
-
-
-
4Gain-
GPSM1-
-
-
-
1Loss-
GPX2-
-
-
-
3Gain-
GPX3-
-
-
-
3Gain-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2A-
-
-
-
3Gain-
GRAMD2B-
-
-
-
3Gain-
GRAMD4-
-
-
-
3Gain-
GRAP2-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GRB14p.E282K
Missense
SNP
0.479
2--
GRB2-
-
-
-
4Gain-
GRB7p.D133N
Missense
SNP
0.515
4Gain-
GREM1-
-
-
-
3Gain-
GRIA1-
-
-
-
3Gain-
GRIA2p.E591K
Missense
SNP
0.446
2--
GRIA4-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2p.R345Q
Missense
SNP
0.468
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN1-
-
-
-
1Loss-
GRIN2Ap.E1461K
p.G1322E
p.E412K
Missense
Missense
Missense
SNP
SNP
SNP
0.447
0.492
0.528
2--
GRIN2C-
-
-
-
4Gain-
GRIN3A-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK3-
-
-
-
3Gain-
GRK5-
-
-
-
1Loss-
GRK6-
-
-
-
3Gain-
GRK7p.M341I
Missense
SNP
0.500
2--
GRM1p.D191N
Missense
SNP
0.511
2--
GRM3p.G18R
p.D194N
p.E870K
Missense
Missense
Missense
SNP
SNP
SNP
0.667
0.299
0.325
3Gain-
GRM5-
-
-
-
1Loss-
GRM6p.E254K
Missense
SNP
0.643
3Gain-
GRM7p.R340Q
Missense
SNP
0.503
2--
GRM8p.S411F
Missense
SNP
0.625
3Gain-
GRN-
-
-
-
4Gain-
GRPEL2-
-
-
-
3Gain-
GRXCR2-
-
-
-
3Gain-
GSAPp.R181C
Missense
SNP
0.617
3Gain-
GSC-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSDMA-
-
-
-
4Gain-
GSDMBp.Q184*
Nonsense
SNP
0.581
4Gain-
GSDME-
-
-
-
3Gain-
GSKIP-
-
-
-
3Gain-
GSN-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTM5p.E49K
Missense
SNP
0.379
2--
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GSTZ1-
-
-
-
3Gain-
GTF2A1-
-
-
-
3Gain-
GTF2A2-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF2H1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GTPBP1-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUCY1A3p.R614Q
Missense
SNP
0.481
NDND-
GUK1-
-
-
-
1Loss-
GUSB-
-
-
-
3Gain-
GVQW3-
-
-
-
1Loss-
GYS2p.P197S
Missense
SNP
0.458
2--
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
3Gain-
GZMH-
-
-
-
3Gain-
GZMK-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
3Gain-
H2AFY2-
-
-
-
3Gain-
H3F3A-
-
-
-
1Loss-
H3F3B-
-
-
-
4Gain-
HABP2-
-
-
-
1Loss-
HABP4-
-
-
-
1Loss-
HACD1-
-
-
-
3Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACE1p.S51L
Missense
SNP
0.530
2--
HAND1-
-
-
-
3Gain-
HAP1-
-
-
-
4Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN2p.P151S
Missense
SNP
0.621
2--
HAPLN3p.L106F
Missense
SNP
0.617
3Gain-
HARBI1-
-
-
-
1Loss-
HARS-
-
-
-
3Gain-
HARS2-
-
-
-
3Gain-
HAS2p.S421L
p.M71I
Missense
Missense
SNP
SNP
0.484
0.503
2--
HAUS2-
-
-
-
3Gain-
HAUS4-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
3Gain-
HAVCR2-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
3Gain-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCN1p.R504Q
Missense
SNP
1.000
1Loss-
HCN4-
-
-
-
3Gain-
HCRT-
-
-
-
4Gain-
HCRTR2p.S19L
Missense
SNP
0.459
2--
HDAC10-
-
-
-
3Gain-
HDAC3-
-
-
-
3Gain-
HDAC5-
-
-
-
4Gain-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HDHD3-
-
-
-
1Loss-
HEATR4-
-
-
-
3Gain-
HEATR5A-
-
-
-
3Gain-
HEATR6-
-
-
-
4Gain-
HEATR9-
-
-
-
4Gain-
HECTD1-
-
-
-
3Gain-
HECTD2-
-
-
-
1Loss-
HECW1-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HELZ-
-
-
-
4Gain-
HEMGN-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPACAM2p.S423L
p.G153E
p.G151E
Missense
Missense
Missense
SNP
SNP
SNP
0.257
0.670
0.339
3Gain-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC1-
-
-
-
3Gain-
HERC2-
-
-
-
3Gain-
HERC4-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HEXA-
-
-
-
3Gain-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
4Gain-
HEXIM1-
-
-
-
4Gain-
HEXIM2-
-
-
-
4Gain-
HGF-
-
-
-
3Gain-
HGS-
-
-
-
4Gain-
HHEX-
-
-
-
1Loss-
HHIPL1-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HID1-
-
-
-
4Gain-
HIF1A-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIF3Ap.E161K
Missense
SNP
0.935
2--
HIGD1B-
-
-
-
4Gain-
HIGD2A-
-
-
-
3Gain-
HIGD2B-
-
-
-
3Gain-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIPK3-
-
-
-
1Loss-
HIRA-
-
-
-
3Gain-
HIVEP1p.H456Y
Missense
SNP
0.488
2--
HIVEP3p.P875S
Missense
SNP
0.532
2--
HK1-
-
-
-
3Gain-
HK3-
-
-
-
3Gain-
HKDC1-
-
-
-
3Gain-
HLF-
-
-
-
4Gain-
HMBS-
-
-
-
1Loss-
HMCN1p.S133F
Missense
SNP
0.515
2--
HMCN2-
-
-
-
1Loss-
HMG20A-
-
-
-
3Gain-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
1Loss-
HMGXB3-
-
-
-
3Gain-
HMGXB4-
-
-
-
3Gain-
HMHB1-
-
-
-
3Gain-
HMMR-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1B-
-
-
-
4Gain-
HNRNPA0-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
3Gain-
HNRNPC-
-
-
-
3Gain-
HNRNPF-
-
-
-
3Gain-
HNRNPH1-
-
-
-
3Gain-
HNRNPH3-
-
-
-
3Gain-
HNRNPK-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
3Gain-
HOMEZ-
-
-
-
3Gain-
HORMAD2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1-
-
-
-
4Gain-
HOXB13-
-
-
-
4Gain-
HOXB2-
-
-
-
4Gain-
HOXB3-
-
-
-
4Gain-
HOXB4-
-
-
-
4Gain-
HOXB5-
-
-
-
4Gain-
HOXB6-
-
-
-
4Gain-
HOXB7-
-
-
-
4Gain-
HOXB8-
-
-
-
4Gain-
HOXB9-
-
-
-
4Gain-
HPS1-
-
-
-
1Loss-
HPS4-
-
-
-
3Gain-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRGp.P478S
Missense
SNP
0.478
2--
HRH2-
-
-
-
3Gain-
HS3ST1p.P138S
Missense
SNP
0.452
2--
HS3ST2p.P188S
p.E284K
Missense
Missense
SNP
SNP
0.442
0.481
2--
HSCB-
-
-
-
3Gain-
HSD11B1p.E200K
Missense
SNP
0.423
2--
HSD17B1-
-
-
-
4Gain-
HSD17B12-
-
-
-
1Loss-
HSD17B3-
-
-
-
1Loss-
HSD17B4-
-
-
-
3Gain-
HSDL2p.P267L
Missense
SNP
1.000
1Loss-
HSF5-
-
-
-
4Gain-
HSP90AA1-
-
-
-
3Gain-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
3Gain-
HSPA2-
-
-
-
3Gain-
HSPA4-
-
-
-
3Gain-
HSPA5-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPB9-
-
-
-
4Gain-
HTATIP2-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1Bp.R230C
Missense
SNP
0.456
2--
HTR1Ep.T284I
Missense
SNP
0.494
2--
HTR2A-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR4-
-
-
-
3Gain-
HTR5A-
-
-
-
3Gain-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HUWE1p.S3377L
p.L2590F
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
HYAL4-
-
-
-
3Gain-
HYDINp.G2558R
p.R1644C
Missense
Missense
SNP
SNP
0.477
0.411
2--
HYKK-
-
-
-
3Gain-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
3Gain-
IARS-
-
-
-
1Loss-
IARS2-
-
-
-
1Loss-
IBA57-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICAM2-
-
-
-
4Gain-
ICE1p.P1304L
Missense
SNP
1.000
1Loss-
ICE2-
-
-
-
3Gain-
IDE-
-
-
-
1Loss-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDNK-
-
-
-
1Loss-
IER5L-
-
-
-
1Loss-
IFI27-
-
-
-
3Gain-
IFI27L1-
-
-
-
3Gain-
IFI27L2-
-
-
-
3Gain-
IFI35-
-
-
-
4Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT20-
-
-
-
4Gain-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
3Gain-
IFT43-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2BP1-
-
-
-
4Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP4-
-
-
-
4Gain-
IGFN1p.W3221*
Nonsense
SNP
0.527
2--
IGHD-
-
-
-
3Gain-
IGHMBP2-
-
-
-
1Loss-
IGHV3-72-
-
-
-
3Gain-
IGIP-
-
-
-
3Gain-
IGKV1-5p.P30S
Missense
SNP
0.415
NDND-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
3Gain-
IGSF21p.G343E
Missense
SNP
0.519
2--
IGSF22-
-
-
-
1Loss-
IGSF9p.E1174K
Missense
SNP
0.545
2--
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
3Gain-
IKBKBp.E753K
Missense
SNP
0.464
2--
IKZF1-
-
-
-
3Gain-
IKZF3p.H35Y
Missense
SNP
0.468
4Gain-
IKZF5-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL12B-
-
-
-
3Gain-
IL13-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL16-
-
-
-
3Gain-
IL17B-
-
-
-
3Gain-
IL17REL-
-
-
-
3Gain-
IL18-
-
-
-
1Loss-
IL18BPp.S53F
Missense
SNP
0.976
1Loss-
IL1RAPL1p.G330E
Missense
SNP
1.000
NDND-
IL25-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL2RB-
-
-
-
3Gain-
IL3-
-
-
-
3Gain-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL36RNp.P137S
Missense
SNP
0.475
2--
IL4-
-
-
-
3Gain-
IL5-
-
-
-
3Gain-
IL5RAp.G251E
Missense
SNP
0.602
2--
IL6-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
1Loss-
IL9-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
INA-
-
-
-
1Loss-
INCA1p.G100E
Missense
SNP
1.000
2--
INCENP-
-
-
-
1Loss-
INF2-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INIP-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
3Gain-
INO80Cp.S204F
Missense
SNP
0.432
2--
INPP5A-
-
-
-
0Del-
INPP5Dp.E813K
Missense
SNP
0.529
2--
INPP5E-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INPPL1-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
3Gain-
INSRRp.Q589*
Nonsense
SNP
0.475
2--
INSYN1-
-
-
-
3Gain-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
3Gain-
INTS1p.P1575S
Missense
SNP
0.383
3Gain-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
4Gain-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INVS-
-
-
-
1Loss-
IPMK-
-
-
-
3Gain-
IPO11-
-
-
-
1Loss-
IPO4-
-
-
-
3Gain-
IPO7-
-
-
-
1Loss-
IPPK-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCHp.Q105*
p.V1002I
Nonsense
Missense
SNP
SNP
0.617
0.493
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IREB2-
-
-
-
3Gain-
IRF1-
-
-
-
3Gain-
IRF2BPL-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF9-
-
-
-
3Gain-
IRGM-
-
-
-
3Gain-
IRS2p.S1048L
Missense
SNP
0.338
2--
IRX1-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
ISCA1-
-
-
-
1Loss-
ISCA2-
-
-
-
3Gain-
ISG20-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISM2-
-
-
-
3Gain-
ISOC1-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ISXp.R86C
Missense
SNP
0.302
3Gain-
ITGA1-
-
-
-
1Loss-
ITGA11-
-
-
-
3Gain-
ITGA2-
-
-
-
1Loss-
ITGA2B-
-
-
-
4Gain-
ITGA3-
-
-
-
4Gain-
ITGA8-
-
-
-
3Gain-
ITGAEp.G166D
Missense
SNP
1.000
2--
ITGB1-
-
-
-
3Gain-
ITGB3-
-
-
-
4Gain-
ITGB4-
-
-
-
4Gain-
ITGB8p.P146S
Missense
SNP
0.809
3Gain-
ITGBL1p.G262E
Missense
SNP
0.338
2--
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITK-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITPK1-
-
-
-
3Gain-
ITPKA-
-
-
-
3Gain-
ITPKB-
-
-
-
1Loss-
ITPR2p.P646S
Missense
SNP
0.593
2--
ITPRID1-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
IVD-
-
-
-
3Gain-
IZUMO1R-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JADE2-
-
-
-
3Gain-
JAG2-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAKMIP2p.R309Q
p.Q39*
p.R6Q
Missense
Nonsense
Missense
SNP
SNP
SNP
0.634
0.610
0.375
3Gain-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
3Gain-
JDP2-
-
-
-
3Gain-
JHY-
-
-
-
1Loss-
JKAMP-
-
-
-
3Gain-
JMJD1C-
-
-
-
3Gain-
JMJD4-
-
-
-
1Loss-
JMJD6-
-
-
-
4Gain-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
3Gain-
JPH4-
-
-
-
3Gain-
JPT1-
-
-
-
4Gain-
JRKL-
-
-
-
1Loss-
JUP-
-
-
-
4Gain-
KALRNp.E609K
Missense
SNP
0.500
2--
KANSL1-
-
-
-
4Gain-
KAT2A-
-
-
-
4Gain-
KAT5-
-
-
-
1Loss-
KAT6B-
-
-
-
3Gain-
KAT7-
-
-
-
4Gain-
KAT8p.P282S
Missense
SNP
0.444
2--
KATNBL1-
-
-
-
3Gain-
KAZALD1-
-
-
-
1Loss-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD3-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNB2p.P761S
Missense
SNP
0.468
2--
KCNC1-
-
-
-
1Loss-
KCNC2p.E573K
Missense
SNP
0.499
2--
KCND2p.G622E
Missense
SNP
0.747
3Gain-
KCNE3-
-
-
-
1Loss-
KCNG1p.R205C
p.E183K
Missense
Missense
SNP
SNP
0.443
0.522
2--
KCNH2-
-
-
-
3Gain-
KCNH4p.R216C
Missense
SNP
0.532
4Gain-
KCNH5p.H54Y
Missense
SNP
0.660
3Gain-
KCNH6p.E801K
Missense
SNP
0.488
4Gain-
KCNIP1-
-
-
-
3Gain-
KCNIP2-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ16-
-
-
-
4Gain-
KCNJ2-
-
-
-
4Gain-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNK1-
-
-
-
1Loss-
KCNK10p.S51F
Missense
SNP
0.333
3Gain-
KCNK13-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMA1p.D475N
Missense
SNP
1.000
1Loss-
KCNMB1-
-
-
-
3Gain-
KCNN2-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNQ3p.S868F
p.P409S
Missense
Missense
SNP
SNP
0.539
0.526
2--
KCNRG-
-
-
-
3Gain-
KCNT1-
-
-
-
1Loss-
KCNT2p.E118K
Missense
SNP
0.485
2--
KCNU1p.M637I
Missense
SNP
0.449
2--
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD14-
-
-
-
1Loss-
KCTD16-
-
-
-
3Gain-
KCTD17-
-
-
-
3Gain-
KCTD2-
-
-
-
4Gain-
KCTD21-
-
-
-
1Loss-
KCTD4-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM3B-
-
-
-
3Gain-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDRp.L782F
p.S544F
Missense
Missense
SNP
SNP
0.512
0.401
2--
KEL-
-
-
-
3Gain-
KHDC1Lp.E18K
Missense
SNP
0.493
2--
KHNYNp.P227S
Missense
SNP
0.681
3Gain-
KIAA0100-
-
-
-
4Gain-
KIAA0391-
-
-
-
3Gain-
KIAA0408p.R275Q
Missense
SNP
0.480
2--
KIAA0586-
-
-
-
3Gain-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1024L-
-
-
-
3Gain-
KIAA1109p.P3941S
Missense
SNP
0.507
2--
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
3Gain-
KIAA1211Lp.G858E
Missense
SNP
0.400
2--
KIAA1217p.P1424S
Missense
SNP
0.641
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1462p.P349L
Missense
SNP
0.683
NDND-
KIAA1549p.S303F
Missense
SNP
0.347
3Gain-
KIAA1549L-
-
-
-
1Loss-
KIAA1671-
-
-
-
3Gain-
KIAA1958-
-
-
-
1Loss-
KIAA2022p.M1229I
p.P339S
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
KIAA2026-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF18B-
-
-
-
4Gain-
KIF19-
-
-
-
4Gain-
KIF1BP-
-
-
-
3Gain-
KIF20A-
-
-
-
3Gain-
KIF20B-
-
-
-
1Loss-
KIF21Bp.E486K
Missense
SNP
0.484
2--
KIF23-
-
-
-
3Gain-
KIF24p.R229*
Nonsense
SNP
0.471
2--
KIF26A-
-
-
-
3Gain-
KIF27-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2B-
-
-
-
4Gain-
KIF3A-
-
-
-
3Gain-
KIF4Bp.S33F
Missense
SNP
0.354
3Gain-
KIF5Ap.X998_splice
Splice_Site
SNP
0.487
2--
KIF5B-
-
-
-
3Gain-
KIF5Cp.S291F
p.R802W
Missense
Missense
SNP
SNP
0.490
0.487
2--
KIF6p.E367K
Missense
SNP
0.420
2--
KIF7-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KLp.E716K
Missense
SNP
0.646
2--
KLC1-
-
-
-
3Gain-
KLC2-
-
-
-
1Loss-
KLF13-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF4-
-
-
-
1Loss-
KLF6-
-
-
-
3Gain-
KLF9-
-
-
-
1Loss-
KLHDC1-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
3Gain-
KLHDC7B-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL10-
-
-
-
4Gain-
KLHL11-
-
-
-
4Gain-
KLHL22-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL28-
-
-
-
3Gain-
KLHL3-
-
-
-
3Gain-
KLHL33-
-
-
-
3Gain-
KLHL35-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLK9p.W79*
Nonsense
SNP
0.947
2--
KLKB1p.P55S
Missense
SNP
0.473
2--
KLLN-
-
-
-
1Loss-
KLRG1p.S147L
Missense
SNP
0.496
2--
KLRG2-
-
-
-
3Gain-
KMOp.G303E
Missense
SNP
0.474
2--
KMT2Ap.S3123L
Missense
SNP
0.975
1Loss-
KMT2Cp.S2816F
Missense
SNP
0.225
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5B-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNL1-
-
-
-
3Gain-
KNSTRN-
-
-
-
3Gain-
KPNA2-
-
-
-
4Gain-
KPNA3-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPNB1-
-
-
-
4Gain-
KRBA1-
-
-
-
3Gain-
KREMEN1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRT10p.G467E
Missense
SNP
0.168
4Gain-
KRT12-
-
-
-
4Gain-
KRT13-
-
-
-
4Gain-
KRT14-
-
-
-
4Gain-
KRT15-
-
-
-
4Gain-
KRT16-
-
-
-
4Gain-
KRT17-
-
-
-
4Gain-
KRT19-
-
-
-
4Gain-
KRT20-
-
-
-
4Gain-
KRT222-
-
-
-
4Gain-
KRT23-
-
-
-
4Gain-
KRT24p.A152T
Missense
SNP
0.472
4Gain-
KRT25-
-
-
-
4Gain-
KRT26-
-
-
-
4Gain-
KRT27-
-
-
-
4Gain-
KRT28-
-
-
-
4Gain-
KRT31-
-
-
-
4Gain-
KRT32-
-
-
-
4Gain-
KRT33A-
-
-
-
4Gain-
KRT33B-
-
-
-
4Gain-
KRT34-
-
-
-
4Gain-
KRT35-
-
-
-
4Gain-
KRT36-
-
-
-
4Gain-
KRT37-
-
-
-
4Gain-
KRT38-
-
-
-
4Gain-
KRT39-
-
-
-
4Gain-
KRT40-
-
-
-
4Gain-
KRT5p.M389I
p.R10Q
Missense
Missense
SNP
SNP
0.482
0.517
2--
KRT76p.R624C
Missense
SNP
0.509
2--
KRT82p.E335K
Missense
SNP
0.471
2--
KRT9-
-
-
-
4Gain-
KRTAP1-1-
-
-
-
4Gain-
KRTAP1-3-
-
-
-
4Gain-
KRTAP1-5-
-
-
-
4Gain-
KRTAP16-1-
-
-
-
4Gain-
KRTAP17-1-
-
-
-
4Gain-
KRTAP29-1-
-
-
-
4Gain-
KRTAP3-1-
-
-
-
4Gain-
KRTAP3-2-
-
-
-
4Gain-
KRTAP3-3-
-
-
-
4Gain-
KRTAP4-1-
-
-
-
4Gain-
KRTAP4-11-
-
-
-
4Gain-
KRTAP4-12-
-
-
-
4Gain-
KRTAP4-16-
-
-
-
4Gain-
KRTAP4-2-
-
-
-
4Gain-
KRTAP4-3-
-
-
-
4Gain-
KRTAP4-4-
-
-
-
4Gain-
KRTAP4-6-
-
-
-
4Gain-
KRTAP4-7-
-
-
-
4Gain-
KRTAP4-8-
-
-
-
4Gain-
KRTAP4-9-
-
-
-
4Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
4Gain-
KRTAP9-2-
-
-
-
4Gain-
KRTAP9-3-
-
-
-
4Gain-
KRTAP9-4-
-
-
-
4Gain-
KRTAP9-7-
-
-
-
4Gain-
KRTAP9-8-
-
-
-
4Gain-
KRTAP9-9-
-
-
-
4Gain-
KSR1p.R265W
Missense
SNP
0.535
4Gain-
KTN1-
-
-
-
3Gain-
KYAT1-
-
-
-
1Loss-
L2HGDH-
-
-
-
3Gain-
L3HYPDH-
-
-
-
3Gain-
L3MBTL2-
-
-
-
3Gain-
L3MBTL4p.P134S
Missense
SNP
0.500
2--
LACTB-
-
-
-
3Gain-
LAMA5p.P1458S
Missense
SNP
0.552
2--
LAMB1p.R1026Q
Missense
SNP
0.577
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC3p.G1197R
Missense
SNP
1.000
1Loss-
LAMTOR1-
-
-
-
1Loss-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARGE2-
-
-
-
1Loss-
LARP1-
-
-
-
3Gain-
LARP1Bp.R871C
Missense
SNP
0.586
2--
LARP4B-
-
-
-
3Gain-
LARP6-
-
-
-
3Gain-
LARS-
-
-
-
3Gain-
LASP1-
-
-
-
4Gain-
LAT2-
-
-
-
3Gain-
LATS1p.P914S
Missense
SNP
0.485
2--
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBR-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCMT2-
-
-
-
3Gain-
LCN1-
-
-
-
1Loss-
LCN10-
-
-
-
1Loss-
LCN12-
-
-
-
1Loss-
LCN15-
-
-
-
1Loss-
LCN2-
-
-
-
1Loss-
LCN6-
-
-
-
1Loss-
LCN8-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LCNL1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCP2-
-
-
-
3Gain-
LCTL-
-
-
-
3Gain-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
3Gain-
LDHC-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LEAP2-
-
-
-
3Gain-
LECT2-
-
-
-
3Gain-
LEFTY1-
-
-
-
1Loss-
LEFTY2-
-
-
-
1Loss-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
3Gain-
LGALS3-
-
-
-
3Gain-
LGALS3BP-
-
-
-
4Gain-
LGALS9-
-
-
-
4Gain-
LGI1-
-
-
-
1Loss-
LGMN-
-
-
-
3Gain-
LGR4-
-
-
-
1Loss-
LGSNp.E495K
Missense
SNP
0.400
2--
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
4Gain-
LHX2-
-
-
-
1Loss-
LHX3-
-
-
-
1Loss-
LHX6-
-
-
-
1Loss-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
1Loss-
LIG3-
-
-
-
4Gain-
LIMD2-
-
-
-
4Gain-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LIN52-
-
-
-
3Gain-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
1Loss-
LINC02203-
-
-
-
3Gain-
LINC02210-CRHR1-
-
-
-
4Gain-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LINS1-
-
-
-
3Gain-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
3Gain-
LIPF-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPMp.R139Q
Missense
SNP
1.000
1Loss-
LIPN-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LLGL2-
-
-
-
4Gain-
LMAN1Lp.P521S
Missense
SNP
0.681
3Gain-
LMAN2-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBRD2-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMLN2-
-
-
-
3Gain-
LMNB1-
-
-
-
3Gain-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO7p.E448K
p.D815N
p.S999L
Missense
Missense
Missense
SNP
SNP
SNP
0.329
0.590
0.586
2--
LMOD2p.D210N
Missense
SNP
0.308
3Gain-
LMOD3p.E121K
Missense
SNP
0.597
2--
LMTK2-
-
-
-
3Gain-
LMX1B-
-
-
-
1Loss-
LNPEP-
-
-
-
1Loss-
LOX-
-
-
-
3Gain-
LOXHD1p.E538K
Missense
SNP
0.449
2--
LOXL1-
-
-
-
3Gain-
LOXL4-
-
-
-
1Loss-
LPAp.P1119S
Missense
SNP
0.554
2--
LPAR1-
-
-
-
1Loss-
LPAR6-
-
-
-
3Gain-
LPCAT1-
-
-
-
1Loss-
LPCAT4-
-
-
-
3Gain-
LPIN2p.S425L
Missense
SNP
0.610
2--
LPO-
-
-
-
4Gain-
LPXN-
-
-
-
1Loss-
LRCH1-
-
-
-
3Gain-
LRCH2p.S315F
Missense
SNP
1.000
NDND-
LRCH4-
-
-
-
3Gain-
LRFN4-
-
-
-
1Loss-
LRFN5p.E511K
p.G595E
Missense
Missense
SNP
SNP
0.613
0.333
NDND-
LRGUK-
-
-
-
3Gain-
LRIG1p.E324K
Missense
SNP
0.510
2--
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
3Gain-
LRP10-
-
-
-
3Gain-
LRP1Bp.R4139*
p.G3098E
Nonsense
Missense
SNP
SNP
0.385
0.442
2--
LRP2p.S1108F
p.G588R
Missense
Missense
SNP
SNP
0.430
0.399
2--
LRP4p.G40E
Missense
SNP
0.992
1Loss-
LRP5-
-
-
-
1Loss-
LRP5L-
-
-
-
3Gain-
LRR1-
-
-
-
3Gain-
LRRC10B-
-
-
-
1Loss-
LRRC14B-
-
-
-
1Loss-
LRRC16Ap.P1305S
Missense
SNP
0.529
NDND-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC20-
-
-
-
3Gain-
LRRC26-
-
-
-
1Loss-
LRRC27-
-
-
-
0Del-
LRRC28-
-
-
-
3Gain-
LRRC32-
-
-
-
1Loss-
LRRC37A3p.L1601V
Missense
SNP
0.456
4Gain-
LRRC37B-
-
-
-
4Gain-
LRRC3Bp.P63S
Missense
SNP
0.507
2--
LRRC3C-
-
-
-
4Gain-
LRRC4-
-
-
-
3Gain-
LRRC45-
-
-
-
4Gain-
LRRC46-
-
-
-
4Gain-
LRRC49p.E153K
Missense
SNP
0.318
3Gain-
LRRC4C-
-
-
-
1Loss-
LRRC55-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
3Gain-
LRRC59-
-
-
-
4Gain-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC66p.L451F
Missense
SNP
0.480
2--
LRRC70-
-
-
-
1Loss-
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
3Gain-
LRRC74B-
-
-
-
3Gain-
LRRC75B-
-
-
-
3Gain-
LRRC8A-
-
-
-
1Loss-
LRRC8Dp.P391H
Missense
SNP
0.421
2--
LRRC9-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRFIP1p.S581F
Missense
SNP
0.493
2--
LRRK1-
-
-
-
3Gain-
LRRK2p.E198K
Missense
SNP
0.533
2--
LRRN2p.A449V
Missense
SNP
0.549
2--
LRRN3p.E417K
Missense
SNP
0.269
3Gain-
LRRN4CL-
-
-
-
1Loss-
LRRTM2p.P398S
Missense
SNP
0.649
3Gain-
LRRTM3-
-
-
-
3Gain-
LRSAM1-
-
-
-
1Loss-
LRTM1p.G218E
Missense
SNP
0.427
2--
LRTOMT-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSAMPp.L305F
Missense
SNP
0.453
2--
LSM11-
-
-
-
3Gain-
LSM12-
-
-
-
4Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSP1-
-
-
-
1Loss-
LTB4R-
-
-
-
3Gain-
LTB4R2-
-
-
-
3Gain-
LTBP2-
-
-
-
3Gain-
LTBP3-
-
-
-
1Loss-
LTC4S-
-
-
-
3Gain-
LTK-
-
-
-
3Gain-
LTO1-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUC7L3-
-
-
-
4Gain-
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
3Gain-
LY9p.S384F
Missense
SNP
0.497
2--
LYPLAL1-
-
-
-
1Loss-
LYRM7-
-
-
-
3Gain-
LYRM9-
-
-
-
4Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
LYZL6-
-
-
-
4Gain-
LZTR1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACROD1-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MADD-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAFG-
-
-
-
4Gain-
MAFK-
-
-
-
3Gain-
MAGEA4p.E53K
Missense
SNP
1.000
NDND-
MAGEB18p.M327I
Missense
SNP
1.000
NDND-
MAGEL2p.P798L
Missense
SNP
0.336
3Gain-
MAGI2-
-
-
-
3Gain-
MAJIN-
-
-
-
1Loss-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MAMDC2-
-
-
-
1Loss-
MAMDC4-
-
-
-
1Loss-
MAML1-
-
-
-
3Gain-
MAML2-
-
-
-
1Loss-
MAN1B1-
-
-
-
1Loss-
MAN2A1-
-
-
-
3Gain-
MAN2A2-
-
-
-
3Gain-
MAN2B2p.S174F
Missense
SNP
0.471
2--
MAN2C1-
-
-
-
3Gain-
MAP10-
-
-
-
1Loss-
MAP1A-
-
-
-
3Gain-
MAP1B-
-
-
-
1Loss-
MAP2K1-
-
-
-
3Gain-
MAP2K2p.S372F
Missense
SNP
0.980
2--
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K1-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP3K13p.P564S
Missense
SNP
0.466
2--
MAP3K14-
-
-
-
4Gain-
MAP3K19p.S953F
Missense
SNP
0.362
2--
MAP3K21-
-
-
-
1Loss-
MAP3K3-
-
-
-
4Gain-
MAP3K5p.R284C
Missense
SNP
0.508
2--
MAP3K8-
-
-
-
3Gain-
MAP3K9-
-
-
-
3Gain-
MAP4K2-
-
-
-
1Loss-
MAP4K5-
-
-
-
3Gain-
MAP6-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
3Gain-
MAPK4p.I69N
Missense
SNP
0.509
2--
MAPK6-
-
-
-
3Gain-
MAPK8-
-
-
-
3Gain-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
3Gain-
MAPK9-
-
-
-
3Gain-
MAPKAP1-
-
-
-
1Loss-
MAPKBP1p.H929Y
Missense
SNP
0.581
3Gain-
MAPT-
-
-
-
4Gain-
MARCH10-
-
-
-
4Gain-
MARCH11-
-
-
-
1Loss-
MARCH3-
-
-
-
3Gain-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARCH8-
-
-
-
3Gain-
MARK2-
-
-
-
1Loss-
MARK3-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MARVELD2p.P136S
Missense
SNP
1.000
1Loss-
MASP2p.A305T
Missense
SNP
0.554
2--
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
1Loss-
MAT2B-
-
-
-
3Gain-
MATR3-
-
-
-
3Gain-
MAX-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MB21D1p.P257S
Missense
SNP
0.326
NDND-
MBIP-
-
-
-
3Gain-
MBL2-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBTD1-
-
-
-
4Gain-
MC5Rp.M121I
Missense
SNP
0.494
2--
MCAM-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCC-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCHR1-
-
-
-
3Gain-
MCIDAS-
-
-
-
1Loss-
MCM10-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCM9p.R585C
Missense
SNP
0.440
2--
MCMBP-
-
-
-
1Loss-
MCRIP1-
-
-
-
4Gain-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
3Gain-
MCU-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA2p.G586S
Missense
SNP
0.235
3Gain-
MDH2-
-
-
-
3Gain-
MDK-
-
-
-
1Loss-
MDP1-
-
-
-
3Gain-
ME3-
-
-
-
1Loss-
MECOMp.R625Q
Missense
SNP
0.402
2--
MED1-
-
-
-
4Gain-
MED10-
-
-
-
1Loss-
MED13-
-
-
-
4Gain-
MED15-
-
-
-
3Gain-
MED17-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED22-
-
-
-
1Loss-
MED24-
-
-
-
4Gain-
MED27-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED6-
-
-
-
3Gain-
MED7-
-
-
-
3Gain-
MEF2A-
-
-
-
3Gain-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
3Gain-
MEGF11-
-
-
-
3Gain-
MEGF9-
-
-
-
1Loss-
MEI1-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MEIOCp.G587R
Missense
SNP
0.475
4Gain-
MEIS2-
-
-
-
3Gain-
MEN1-
-
-
-
1Loss-
MEOX1-
-
-
-
4Gain-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METRNL-
-
-
-
4Gain-
METTL15-
-
-
-
1Loss-
METTL17-
-
-
-
3Gain-
METTL23-
-
-
-
4Gain-
METTL27-
-
-
-
3Gain-
METTL2A-
-
-
-
4Gain-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
3Gain-
METTL7Ap.S181L
Missense
SNP
0.613
2--
MEX3B-
-
-
-
3Gain-
MFAP1-
-
-
-
3Gain-
MFAP3-
-
-
-
3Gain-
MFGE8-
-
-
-
3Gain-
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD11-
-
-
-
4Gain-
MFSD13A-
-
-
-
1Loss-
MFSD14B-
-
-
-
1Loss-
MFSD14C-
-
-
-
1Loss-
MGA-
-
-
-
3Gain-
MGAMp.E513K
Missense
SNP
0.336
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT1-
-
-
-
3Gain-
MGAT2-
-
-
-
3Gain-
MGAT3-
-
-
-
3Gain-
MGAT4B-
-
-
-
3Gain-
MGAT5B-
-
-
-
4Gain-
MGMT-
-
-
-
1Loss-
MIA2-
-
-
-
3Gain-
MICAL2p.S1097F
Missense
SNP
0.986
1Loss-
MICAL3p.P1253L
Missense
SNP
0.567
2--
MICALCLp.S20L
Missense
SNP
0.986
NDND-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU1-
-
-
-
3Gain-
MIEF1-
-
-
-
3Gain-
MIEN1-
-
-
-
4Gain-
MIER2p.E223K
Missense
SNP
1.000
2--
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
3Gain-
MIF4GD-
-
-
-
4Gain-
MIGA2-
-
-
-
1Loss-
MILR1-
-
-
-
4Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MIPOL1-
-
-
-
3Gain-
MIS18BP1-
-
-
-
3Gain-
MIXL1-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN3-
-
-
-
3Gain-
MKS1-
-
-
-
4Gain-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLC1-
-
-
-
3Gain-
MLH3-
-
-
-
3Gain-
MLLT10-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLLT6-
-
-
-
4Gain-
MLNR-
-
-
-
3Gain-
MLX-
-
-
-
4Gain-
MLXIPL-
-
-
-
3Gain-
MMD-
-
-
-
4Gain-
MMD2-
-
-
-
3Gain-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP11-
-
-
-
3Gain-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP14-
-
-
-
3Gain-
MMP20-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP28-
-
-
-
4Gain-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MNAT1-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
3Gain-
MOB2-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MOK-
-
-
-
3Gain-
MORC2-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MORN4-
-
-
-
1Loss-
MORN5-
-
-
-
1Loss-
MOSPD3-
-
-
-
3Gain-
MOV10L1p.S2L
Missense
SNP
0.686
3Gain-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPO-
-
-
-
4Gain-
MPP2-
-
-
-
4Gain-
MPP3-
-
-
-
4Gain-
MPP5-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
3Gain-
MPPED1-
-
-
-
3Gain-
MPPED2-
-
-
-
1Loss-
MPST-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRC1-
-
-
-
3Gain-
MRC2-
-
-
-
4Gain-
MRE11-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM1-
-
-
-
4Gain-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
3Gain-
MROH2B-
-
-
-
1Loss-
MROH7p.P123L
Missense
SNP
0.453
2--
MRPL10-
-
-
-
4Gain-
MRPL11-
-
-
-
1Loss-
MRPL12-
-
-
-
4Gain-
MRPL16-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL21-
-
-
-
1Loss-
MRPL22-
-
-
-
3Gain-
MRPL23-
-
-
-
1Loss-
MRPL27-
-
-
-
4Gain-
MRPL32-
-
-
-
3Gain-
MRPL36-
-
-
-
1Loss-
MRPL38-
-
-
-
4Gain-
MRPL40-
-
-
-
3Gain-
MRPL41-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL45-
-
-
-
4Gain-
MRPL46-
-
-
-
3Gain-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL50-
-
-
-
1Loss-
MRPL52-
-
-
-
3Gain-
MRPL55-
-
-
-
1Loss-
MRPL58-
-
-
-
4Gain-
MRPS11-
-
-
-
3Gain-
MRPS16-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS2-
-
-
-
1Loss-
MRPS23-
-
-
-
4Gain-
MRPS24-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRPS7-
-
-
-
4Gain-
MRRF-
-
-
-
1Loss-
MRTFA-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4Ap.S159L
Missense
SNP
0.993
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD3-
-
-
-
1Loss-
MSANTD3-TMEFF1-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSI2-
-
-
-
4Gain-
MSL1-
-
-
-
4Gain-
MSMB-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSS51-
-
-
-
3Gain-
MSX2-
-
-
-
3Gain-
MTA1-
-
-
-
3Gain-
MTA2-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFP1p.P116L
Missense
SNP
0.318
3Gain-
MTG1-
-
-
-
1Loss-
MTHFD1p.P720L
Missense
SNP
0.635
3Gain-
MTHFRp.R335H
Missense
SNP
0.521
2--
MTHFS-
-
-
-
3Gain-
MTMR10-
-
-
-
3Gain-
MTMR12-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR3-
-
-
-
3Gain-
MTMR4-
-
-
-
4Gain-
MTNR1B-
-
-
-
1Loss-
MTORp.R2152C
p.P568S
Missense
Missense
SNP
SNP
0.429
0.573
2--
MTPAP-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC15p.R300Q
Missense
SNP
0.987
1Loss-
MUC16p.S8574F
p.S2253F
p.G138E
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
2--
MUC17p.S3461L
p.S4104F
Missense
Missense
SNP
SNP
0.344
0.678
3Gain-
MUC2-
-
-
-
1Loss-
MUC3A-
-
-
-
3Gain-
MUC4p.E4963K
p.S792F
Missense
Missense
SNP
SNP
0.516
0.544
2--
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSK-
-
-
-
1Loss-
MVB12B-
-
-
-
1Loss-
MXD3-
-
-
-
3Gain-
MXI1-
-
-
-
1Loss-
MXRA7-
-
-
-
4Gain-
MYADML2-
-
-
-
4Gain-
MYBL2p.S607F
Missense
SNP
0.591
2--
MYBPC2p.E24K
Missense
SNP
0.982
2--
MYBPC3-
-
-
-
1Loss-
MYCBPAP-
-
-
-
4Gain-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
1Loss-
MYH1p.E681K
Missense
SNP
1.000
2--
MYH13p.S1657F
Missense
SNP
0.996
2--
MYH2p.P544S
Missense
SNP
1.000
2--
MYH4p.E209K
Missense
SNP
0.982
2--
MYH6-
-
-
-
3Gain-
MYH7p.E1162K
Missense
SNP
0.190
3Gain-
MYH8p.E878K
Missense
SNP
1.000
2--
MYH9-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL4-
-
-
-
4Gain-
MYL7-
-
-
-
3Gain-
MYMK-
-
-
-
1Loss-
MYO10-
-
-
-
1Loss-
MYO15Bp.L1767F
Missense
SNP
0.441
4Gain-
MYO18A-
-
-
-
4Gain-
MYO18Bp.E421K
Missense
SNP
0.330
3Gain-
MYO19-
-
-
-
4Gain-
MYO1D-
-
-
-
4Gain-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO3Ap.S1395F
p.R1495Q
Missense
Missense
SNP
SNP
0.603
0.601
3Gain-
MYO5A-
-
-
-
3Gain-
MYO5C-
-
-
-
3Gain-
MYO7A-
-
-
-
1Loss-
MYO9A-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM1p.H471Y
Missense
SNP
0.491
2--
MYOT-
-
-
-
3Gain-
MYOZ1-
-
-
-
3Gain-
MYOZ2p.R63K
Missense
SNP
0.551
2--
MYOZ3-
-
-
-
3Gain-
MYPN-
-
-
-
3Gain-
MYRF-
-
-
-
1Loss-
MYT1Lp.E947K
Missense
SNP
0.396
2--
MYZAPp.E100K
Missense
SNP
0.623
3Gain-
MZB1-
-
-
-
3Gain-
N4BP3-
-
-
-
3Gain-
NAA11p.S42F
Missense
SNP
0.545
2--
NAA30-
-
-
-
3Gain-
NAA35-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NACA2-
-
-
-
4Gain-
NACAD-
-
-
-
3Gain-
NACC2-
-
-
-
1Loss-
NADK2-
-
-
-
1Loss-
NADSYN1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAGLU-
-
-
-
4Gain-
NAGS-
-
-
-
4Gain-
NAIF1-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NANOGP8-
-
-
-
3Gain-
NANOS1-
-
-
-
1Loss-
NANS-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NARF-
-
-
-
4Gain-
NARS2-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2p.S274F
Missense
SNP
0.461
2--
NAT9-
-
-
-
4Gain-
NAV2-
-
-
-
1Loss-
NBEAL1p.S840L
Missense
SNP
0.543
2--
NBEAL2p.R274C
Missense
SNP
0.510
2--
NBR1-
-
-
-
4Gain-
NCAM1-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCAPH2-
-
-
-
3Gain-
NCBP1-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCKAP5Lp.P441S
Missense
SNP
0.496
2--
NCLp.R597W
Missense
SNP
0.517
2--
NCOA4-
-
-
-
3Gain-
NCOA6p.F1708Y
Missense
SNP
0.464
2--
NCOR2p.P1536S
Missense
SNP
0.535
2--
NCR3LG1-
-
-
-
1Loss-
NCS1-
-
-
-
1Loss-
NDFIP1-
-
-
-
3Gain-
NDN-
-
-
-
3Gain-
NDOR1-
-
-
-
1Loss-
NDRG2-
-
-
-
3Gain-
NDST1-
-
-
-
3Gain-
NDST2-
-
-
-
3Gain-
NDST3p.G357E
Missense
SNP
0.504
2--
NDST4p.S862L
Missense
SNP
0.548
2--
NDUFA2-
-
-
-
3Gain-
NDUFA4-
-
-
-
4Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
3Gain-
NDUFA8-
-
-
-
1Loss-
NDUFAF1-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFAF8-
-
-
-
4Gain-
NDUFB1-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS3-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NEBp.E2544K
Missense
SNP
0.535
2--
NEBL-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NEDD4-
-
-
-
3Gain-
NEDD8-
-
-
-
3Gain-
NEDD8-MDP1-
-
-
-
3Gain-
NEFH-
-
-
-
3Gain-
NEIL1-
-
-
-
3Gain-
NEK3-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NEK6-
-
-
-
1Loss-
NEK8-
-
-
-
4Gain-
NEK9-
-
-
-
3Gain-
NELFB-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NELL2p.R724Q
Missense
SNP
0.421
2--
NEMF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1p.R276Q
Missense
SNP
0.540
2--
NEU3-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL1B-
-
-
-
3Gain-
NEUROD2-
-
-
-
4Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
3Gain-
NEUROG3-
-
-
-
3Gain-
NF1-
-
-
-
4Gain-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASCp.E145K
Missense
SNP
0.540
2--
NFATC1p.S233F
Missense
SNP
0.396
2--
NFATC3p.R569C
Missense
SNP
0.544
2--
NFATC4-
-
-
-
3Gain-
NFE2L1-
-
-
-
4Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFIL3-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIA-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGB-
-
-
-
3Gain-
NGDN-
-
-
-
3Gain-
NGFR-
-
-
-
4Gain-
NGRN-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHP2-
-
-
-
3Gain-
NID1p.E340K
Missense
SNP
0.519
2--
NID2-
-
-
-
3Gain-
NIM1K-
-
-
-
1Loss-
NIN-
-
-
-
3Gain-
NINJ1-
-
-
-
1Loss-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL4-
-
-
-
3Gain-
NIPBL-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
1Loss-
NIPSNAP3B-
-
-
-
1Loss-
NKAIN2p.D180N
Missense
SNP
0.389
2--
NKAPD1-
-
-
-
1Loss-
NKD2-
-
-
-
1Loss-
NKIRAS2-
-
-
-
4Gain-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
3Gain-
NKX2-3-
-
-
-
1Loss-
NKX2-5-
-
-
-
3Gain-
NKX2-8-
-
-
-
3Gain-
NKX6-2-
-
-
-
0Del-
NLE1-
-
-
-
4Gain-
NLGN1p.H742Y
Missense
SNP
0.472
2--
NLK-
-
-
-
4Gain-
NLN-
-
-
-
1Loss-
NLRC5p.R262H
Missense
SNP
0.563
2--
NLRP1p.R788K
Missense
SNP
1.000
2--
NLRP10-
-
-
-
1Loss-
NLRP13p.E173K
Missense
SNP
0.969
2--
NLRP14-
-
-
-
1Loss-
NLRP3p.D305N
Missense
SNP
0.504
2--
NLRP6-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMB-
-
-
-
3Gain-
NME1-
-
-
-
4Gain-
NME1-NME2-
-
-
-
4Gain-
NME5-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NMRK1-
-
-
-
1Loss-
NMT1-
-
-
-
4Gain-
NMT2-
-
-
-
3Gain-
NMUR2-
-
-
-
3Gain-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NODAL-
-
-
-
3Gain-
NOG-
-
-
-
4Gain-
NOL11-
-
-
-
4Gain-
NOL12-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOL8-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP10-
-
-
-
3Gain-
NOP16-
-
-
-
3Gain-
NOP9-
-
-
-
3Gain-
NOS2p.E145K
Missense
SNP
0.543
4Gain-
NOS3-
-
-
-
3Gain-
NOTCH1-
-
-
-
1Loss-
NOTCH3p.P898S
Missense
SNP
0.975
2--
NOTUM-
-
-
-
4Gain-
NOVA1p.R121*
Nonsense
SNP
0.641
4Gain-
NOX4p.R455K
Missense
SNP
0.986
1Loss-
NOX5-
-
-
-
3Gain-
NOXA1-
-
-
-
1Loss-
NOXRED1-
-
-
-
3Gain-
NPAP1p.G196R
Missense
SNP
0.358
3Gain-
NPAS3-
-
-
-
3Gain-
NPAS4p.M715I
Missense
SNP
1.000
1Loss-
NPAT-
-
-
-
1Loss-
NPB-
-
-
-
4Gain-
NPC1L1-
-
-
-
3Gain-
NPC2-
-
-
-
3Gain-
NPDC1-
-
-
-
1Loss-
NPEPPS-
-
-
-
4Gain-
NPFFR1-
-
-
-
3Gain-
NPFFR2p.M317I
Missense
SNP
0.505
2--
NPLOC4-
-
-
-
4Gain-
NPM1-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPR3-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPSR1p.L59F
Missense
SNP
0.689
3Gain-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
4Gain-
NPTX2-
-
-
-
3Gain-
NPTXR-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR1D1-
-
-
-
4Gain-
NR1H3-
-
-
-
1Loss-
NR2E3-
-
-
-
3Gain-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR3C1-
-
-
-
3Gain-
NR4A3-
-
-
-
1Loss-
NR5A1-
-
-
-
1Loss-
NR6A1-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRARP-
-
-
-
1Loss-
NRBF2-
-
-
-
3Gain-
NRCAMp.P1007L
Missense
SNP
0.376
3Gain-
NRDE2-
-
-
-
3Gain-
NREP-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
3Gain-
NRG3-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRGN-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRKp.S762L
p.R1067Q
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
NRL-
-
-
-
3Gain-
NRP1-
-
-
-
3Gain-
NRXN1p.G1406E
p.R185C
Missense
Missense
SNP
SNP
0.431
0.445
2--
NRXN2-
-
-
-
1Loss-
NRXN3p.S264F
Missense
SNP
0.290
3Gain-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
3Gain-
NSG2-
-
-
-
3Gain-
NSMCE3-
-
-
-
3Gain-
NSMCE4A-
-
-
-
1Loss-
NSMF-
-
-
-
1Loss-
NSRP1-
-
-
-
4Gain-
NSUN2-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NSUN7p.P254L
Missense
SNP
0.490
2--
NT5C-
-
-
-
4Gain-
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5C3B-
-
-
-
4Gain-
NTMp.E184K
Missense
SNP
1.000
1Loss-
NTMT1-
-
-
-
1Loss-
NTN4p.R380C
Missense
SNP
0.472
2--
NTNG2-
-
-
-
1Loss-
NTPCR-
-
-
-
1Loss-
NTRK2-
-
-
-
1Loss-
NTRK3p.E355K
Missense
SNP
0.385
3Gain-
NUB1-
-
-
-
3Gain-
NUBPL-
-
-
-
3Gain-
NUCB2-
-
-
-
1Loss-
NUDCD2-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12p.R280Q
Missense
SNP
1.000
1Loss-
NUDT13-
-
-
-
3Gain-
NUDT14-
-
-
-
3Gain-
NUDT15-
-
-
-
3Gain-
NUDT22-
-
-
-
1Loss-
NUDT5-
-
-
-
3Gain-
NUDT8-
-
-
-
1Loss-
NUFIP1p.G267R
Missense
SNP
0.289
2--
NUFIP2-
-
-
-
4Gain-
NUGGCp.G81R
Missense
SNP
0.471
2--
NUMA1-
-
-
-
1Loss-
NUMB-
-
-
-
3Gain-
NUP153p.S996F
Missense
SNP
0.596
2--
NUP155-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP188-
-
-
-
1Loss-
NUP205-
-
-
-
3Gain-
NUP214-
-
-
-
1Loss-
NUP50-
-
-
-
3Gain-
NUP62CLp.V175L
Missense
SNP
1.000
NDND-
NUP85-
-
-
-
4Gain-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUS1p.P255S
Missense
SNP
0.520
2--
NUSAP1-
-
-
-
3Gain-
NUTM1-
-
-
-
3Gain-
NUTM2F-
-
-
-
1Loss-
NUTM2G-
-
-
-
1Loss-
NWD2p.E674K
Missense
SNP
0.468
2--
NXF1-
-
-
-
1Loss-
NXNL2-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4p.E172K
Missense
SNP
0.955
1Loss-
NXPH1-
-
-
-
3Gain-
NXPH3-
-
-
-
4Gain-
NYAP1-
-
-
-
3Gain-
NYAP2p.D129N
Missense
SNP
0.498
2--
NYNRIN-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OBSCN-
-
-
-
1Loss-
OBSL1p.G935E
Missense
SNP
0.454
2--
OCA2-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF2-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGDHL-
-
-
-
3Gain-
OGFOD3-
-
-
-
4Gain-
OGN-
-
-
-
1Loss-
OIP5-
-
-
-
3Gain-
OIT3-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
OLFM1-
-
-
-
1Loss-
OLFM4-
-
-
-
3Gain-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
1Loss-
OMD-
-
-
-
1Loss-
OMG-
-
-
-
4Gain-
OMP-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPTCp.R232W
Missense
SNP
0.528
2--
OPTN-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3p.R220*
p.E173K
Nonsense
Missense
SNP
SNP
0.984
0.968
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H5p.A65V
Missense
SNP
0.969
2--
OR10J3p.S6F
Missense
SNP
0.473
2--
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR11G2p.P15S
Missense
SNP
0.441
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR13A1-
-
-
-
3Gain-
OR13C2-
-
-
-
1Loss-
OR13C3-
-
-
-
1Loss-
OR13C4-
-
-
-
1Loss-
OR13C5-
-
-
-
1Loss-
OR13C8-
-
-
-
1Loss-
OR13C9-
-
-
-
1Loss-
OR13D1-
-
-
-
1Loss-
OR13F1-
-
-
-
1Loss-
OR1B1-
-
-
-
1Loss-
OR1D2p.G41E
Missense
SNP
1.000
2--
OR1J1-
-
-
-
1Loss-
OR1J2-
-
-
-
1Loss-
OR1J4-
-
-
-
1Loss-
OR1K1p.R266Q
Missense
SNP
1.000
1Loss-
OR1L1-
-
-
-
1Loss-
OR1L3-
-
-
-
1Loss-
OR1L4-
-
-
-
1Loss-
OR1L6-
-
-
-
1Loss-
OR1L8-
-
-
-
1Loss-
OR1N1-
-
-
-
1Loss-
OR1N2-
-
-
-
1Loss-
OR1Q1-
-
-
-
1Loss-
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7p.E179K
Missense
SNP
0.427
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1p.E68K
Missense
SNP
0.477
2--
OR2AT4-
-
-
-
1Loss-
OR2D2p.R122C
Missense
SNP
0.972
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2p.S163F
Missense
SNP
0.406
2--
OR2G3p.H56Y
Missense
SNP
0.517
2--
OR2J3p.G268E
Missense
SNP
0.457
2--
OR2K2-
-
-
-
1Loss-
OR2M4p.L154F
Missense
SNP
0.504
2--
OR2M7p.E111K
p.E4K
Missense
Missense
SNP
SNP
0.457
0.429
2--
OR2T12p.R318K
Missense
SNP
0.518
2--
OR2T6p.M39I
Missense
SNP
0.486
2--
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2Y1-
-
-
-
3Gain-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D1-
-
-
-
4Gain-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D2-
-
-
-
4Gain-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4E1-
-
-
-
3Gain-
OR4E2-
-
-
-
3Gain-
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4K1p.R226Q
Missense
SNP
0.648
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4M1p.S93F
Missense
SNP
0.345
3Gain-
OR4M2-
-
-
-
3Gain-
OR4N2p.L164F
Missense
SNP
0.681
3Gain-
OR4N4-
-
-
-
3Gain-
OR4N5-
-
-
-
3Gain-
OR4P4-
-
-
-
1Loss-
OR4Q2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR4S1p.S215F
Missense
SNP
1.000
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1p.S16F
Missense
SNP
0.955
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5p.E49K
Missense
SNP
0.962
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2p.E298K
Missense
SNP
0.990
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1p.P292L
Missense
SNP
1.000
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5AU1-
-
-
-
3Gain-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5C1-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18p.P288S
Missense
SNP
1.000
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H15p.G161E
Missense
SNP
0.476
2--
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5K4p.S93F
Missense
SNP
0.446
2--
OR5L1p.E196K
Missense
SNP
1.000
1Loss-
OR5L2p.S217F
Missense
SNP
0.976
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8p.L210F
Missense
SNP
0.987
1Loss-
OR5M9-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5R1p.E310D
Missense
SNP
0.983
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B1p.S156F
Missense
SNP
0.301
3Gain-
OR6C2p.P227S
p.G251E
Missense
Missense
SNP
SNP
0.410
0.515
2--
OR6C6p.S117F
Missense
SNP
0.179
2--
OR6J1-
-
-
-
3Gain-
OR6K2p.L129F
Missense
SNP
0.500
2--
OR6M1-
-
-
-
1Loss-
OR6Q1-
-
-
-
1Loss-
OR6S1-
-
-
-
3Gain-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR6Y1p.L255F
Missense
SNP
0.489
2--
OR7A17p.E22K
Missense
SNP
0.968
2--
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1p.S146F
Missense
SNP
0.913
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORM1-
-
-
-
1Loss-
ORM2-
-
-
-
1Loss-
ORMDL3-
-
-
-
4Gain-
OSBP-
-
-
-
1Loss-
OSBP2p.D373N
Missense
SNP
0.338
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL7-
-
-
-
4Gain-
OSGEP-
-
-
-
3Gain-
OSM-
-
-
-
3Gain-
OSMR-
-
-
-
1Loss-
OSTF1-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OTOGLp.G228E
Missense
SNP
0.456
2--
OTOP2-
-
-
-
4Gain-
OTOP3-
-
-
-
4Gain-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUB2-
-
-
-
3Gain-
OTUD1-
-
-
-
3Gain-
OTUD7A-
-
-
-
3Gain-
OTULIN-
-
-
-
1Loss-
OTULINL-
-
-
-
1Loss-
OTX2-
-
-
-
3Gain-
OVCH1p.R520C
Missense
SNP
0.473
2--
OVCH2-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OXA1L-
-
-
-
3Gain-
OXCT1-
-
-
-
1Loss-
OXLD1-
-
-
-
4Gain-
P2RX3-
-
-
-
1Loss-
P2RX6-
-
-
-
3Gain-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H4-
-
-
-
4Gain-
P4HA1-
-
-
-
3Gain-
P4HA2-
-
-
-
3Gain-
P4HA3-
-
-
-
1Loss-
P4HB-
-
-
-
4Gain-
PAAF1-
-
-
-
1Loss-
PABPN1-
-
-
-
3Gain-
PACRGp.P122S
Missense
SNP
0.496
2--
PACS1-
-
-
-
1Loss-
PACS2-
-
-
-
3Gain-
PACSIN2-
-
-
-
3Gain-
PACSIN3-
-
-
-
1Loss-
PAEP-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAHp.R297C
Missense
SNP
0.444
2--
PAIP1-
-
-
-
1Loss-
PAIP2-
-
-
-
3Gain-
PAK1-
-
-
-
1Loss-
PAK2p.T112I
Missense
SNP
0.394
2--
PAK6-
-
-
-
3Gain-
PALD1-
-
-
-
3Gain-
PALM2-
-
-
-
1Loss-
PALM2-AKAP2-
-
-
-
1Loss-
PALMDp.E428K
Missense
SNP
0.497
2--
PAM-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK3-
-
-
-
3Gain-
PANX1-
-
-
-
1Loss-
PANX2-
-
-
-
3Gain-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
3Gain-
PAPOLA-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PAPPA-
-
-
-
1Loss-
PAPPA2p.R57*
p.D1058N
p.E1242K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.554
0.462
0.517
2--
PAPSS2-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARG-
-
-
-
3Gain-
PARP1-
-
-
-
1Loss-
PARP11p.Q259*
Nonsense
SNP
0.469
2--
PARP12p.E437K
Missense
SNP
0.218
3Gain-
PARP16-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP4p.H650Y
Missense
SNP
0.372
2--
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PATL2-
-
-
-
3Gain-
PATZ1-
-
-
-
3Gain-
PAX2-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX6-
-
-
-
1Loss-
PAX9-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PAXX-
-
-
-
1Loss-
PBLD-
-
-
-
3Gain-
PBX3-
-
-
-
1Loss-
PC-
-
-
-
1Loss-
PCBD1-
-
-
-
3Gain-
PCBD2-
-
-
-
3Gain-
PCDH1-
-
-
-
3Gain-
PCDH11Xp.Q468*
Nonsense
SNP
1.000
NDND-
PCDH12-
-
-
-
3Gain-
PCDH15p.E1492K
p.E1044K
p.R769C
Missense
Missense
Missense
SNP
SNP
SNP
0.310
0.331
0.582
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH18p.S170F
Missense
SNP
0.478
2--
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA1p.S280F
p.E317K
Missense
Missense
SNP
SNP
0.626
0.651
3Gain-
PCDHA10p.S3F
Missense
SNP
0.282
3Gain-
PCDHA11-
-
-
-
3Gain-
PCDHA12-
-
-
-
3Gain-
PCDHA13p.G300R
Missense
SNP
0.316
3Gain-
PCDHA2p.E120K
p.S337L
p.R644Q
Missense
Missense
Missense
SNP
SNP
SNP
0.303
0.307
0.357
3Gain-
PCDHA3p.E253K
Missense
SNP
0.639
3Gain-
PCDHA4p.E181K
Missense
SNP
0.625
3Gain-
PCDHA5p.E175K
Missense
SNP
0.649
3Gain-
PCDHA6p.G430E
Missense
SNP
0.339
3Gain-
PCDHA7p.P777S
Missense
SNP
0.640
3Gain-
PCDHA8-
-
-
-
3Gain-
PCDHA9-
-
-
-
3Gain-
PCDHAC1-
-
-
-
3Gain-
PCDHAC2-
-
-
-
3Gain-
PCDHB1p.R304K
Missense
SNP
0.643
3Gain-
PCDHB10p.D159N
Missense
SNP
0.296
3Gain-
PCDHB11p.D70N
Missense
SNP
0.625
3Gain-
PCDHB12-
-
-
-
3Gain-
PCDHB13-
-
-
-
3Gain-
PCDHB14-
-
-
-
3Gain-
PCDHB15-
-
-
-
3Gain-
PCDHB16p.R222Q
Missense
SNP
0.666
3Gain-
PCDHB2-
-
-
-
3Gain-
PCDHB3-
-
-
-
3Gain-
PCDHB4p.E119K
Missense
SNP
0.315
3Gain-
PCDHB5p.P771S
Missense
SNP
0.340
3Gain-
PCDHB6-
-
-
-
3Gain-
PCDHB7-
-
-
-
3Gain-
PCDHB8p.S700L
Missense
SNP
0.385
3Gain-
PCDHB9-
-
-
-
3Gain-
PCDHGA1-
-
-
-
3Gain-
PCDHGA10-
-
-
-
3Gain-
PCDHGA11-
-
-
-
3Gain-
PCDHGA12-
-
-
-
3Gain-
PCDHGA2p.H208Y
p.S416F
Missense
Missense
SNP
SNP
0.661
0.344
3Gain-
PCDHGA3-
-
-
-
3Gain-
PCDHGA4-
-
-
-
3Gain-
PCDHGA5-
-
-
-
3Gain-
PCDHGA6-
-
-
-
3Gain-
PCDHGA7-
-
-
-
3Gain-
PCDHGA8p.E111K
Missense
SNP
0.645
3Gain-
PCDHGA9-
-
-
-
3Gain-
PCDHGB1p.D517N
Missense
SNP
0.515
3Gain-
PCDHGB2-
-
-
-
3Gain-
PCDHGB3-
-
-
-
3Gain-
PCDHGB4p.S137F
Missense
SNP
0.305
3Gain-
PCDHGB5-
-
-
-
3Gain-
PCDHGB6-
-
-
-
3Gain-
PCDHGB7-
-
-
-
3Gain-
PCDHGC3-
-
-
-
3Gain-
PCDHGC4-
-
-
-
3Gain-
PCDHGC5-
-
-
-
3Gain-
PCED1Bp.E171K
Missense
SNP
0.510
2--
PCF11-
-
-
-
1Loss-
PCGF2-
-
-
-
4Gain-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCK1p.D84N
Missense
SNP
0.427
2--
PCK2-
-
-
-
3Gain-
PCLAF-
-
-
-
3Gain-
PCLOp.E4400K
p.S4204L
p.E4112K
Missense
Missense
Missense
SNP
SNP
SNP
0.301
0.621
0.701
3Gain-
PCNX1p.R1728C
Missense
SNP
0.658
3Gain-
PCNX2p.S681F
p.E230K
Missense
Missense
SNP
SNP
0.991
1.000
1Loss-
PCNX3-
-
-
-
1Loss-
PCNX4-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCSK1p.S643F
Missense
SNP
1.000
1Loss-
PCSK5-
-
-
-
1Loss-
PCSK6-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PCSK9p.E195K
Missense
SNP
0.514
2--
PCTP-
-
-
-
4Gain-
PCYOX1L-
-
-
-
3Gain-
PCYT2-
-
-
-
4Gain-
PDAP1-
-
-
-
3Gain-
PDCp.G120E
Missense
SNP
0.561
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL-
-
-
-
1Loss-
PDE1Cp.X311_splice
Splice_Site
SNP
0.725
3Gain-
PDE2A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4Cp.P110S
Missense
SNP
0.974
2--
PDE4D-
-
-
-
1Loss-
PDE4DIPp.E1284K
Missense
SNP
0.148
2--
PDE6A-
-
-
-
3Gain-
PDE6Bp.E310K
Missense
SNP
0.476
2--
PDE6C-
-
-
-
1Loss-
PDE6G-
-
-
-
4Gain-
PDE7Bp.E289K
Missense
SNP
0.513
2--
PDE8A-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDGFRB-
-
-
-
3Gain-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK2-
-
-
-
4Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM4-
-
-
-
3Gain-
PDLIM7-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDXP-
-
-
-
3Gain-
PDZD2-
-
-
-
1Loss-
PDZD3-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PEAK1-
-
-
-
3Gain-
PECAM1-
-
-
-
4Gain-
PEG10-
-
-
-
3Gain-
PELI2p.P336L
Missense
SNP
0.658
3Gain-
PELI3-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PENKp.E180K
Missense
SNP
0.484
2--
PES1-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX11A-
-
-
-
3Gain-
PEX12-
-
-
-
4Gain-
PEX16-
-
-
-
1Loss-
PEX26-
-
-
-
3Gain-
PEX6p.S919F
Missense
SNP
0.394
2--
PFDN1-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PFN3-
-
-
-
3Gain-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
4Gain-
PGBD4-
-
-
-
3Gain-
PGF-
-
-
-
3Gain-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGM5-
-
-
-
1Loss-
PGPEP1L-
-
-
-
3Gain-
PGR-
-
-
-
1Loss-
PGS1-
-
-
-
4Gain-
PHAX-
-
-
-
3Gain-
PHBp.Q62P
Missense
SNP
0.485
4Gain-
PHETA2-
-
-
-
3Gain-
PHF11-
-
-
-
3Gain-
PHF12-
-
-
-
4Gain-
PHF14-
-
-
-
4Gain-
PHF19-
-
-
-
1Loss-
PHF2-
-
-
-
1Loss-
PHF20L1p.R8C
Missense
SNP
0.531
2--
PHF21A-
-
-
-
1Loss-
PHF21B-
-
-
-
3Gain-
PHF5A-
-
-
-
3Gain-
PHGR1-
-
-
-
3Gain-
PHKBp.P691S
Missense
SNP
0.468
2--
PHKG1-
-
-
-
3Gain-
PHLDA2-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHOSPHO1-
-
-
-
4Gain-
PHOX2A-
-
-
-
1Loss-
PHPT1-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
1Loss-
PHYHIPL-
-
-
-
3Gain-
PHYKPL-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PI4KBp.Q821*
Nonsense
SNP
0.408
2--
PIAS1-
-
-
-
3Gain-
PIBF1p.R682C
Missense
SNP
0.540
2--
PICALM-
-
-
-
1Loss-
PICK1-
-
-
-
3Gain-
PIDD1-
-
-
-
1Loss-
PIEZO2p.E2490K
Missense
SNP
0.529
2--
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGH-
-
-
-
3Gain-
PIGS-
-
-
-
4Gain-
PIGW-
-
-
-
4Gain-
PIH1D2-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM3-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4K2B-
-
-
-
4Gain-
PIP4P1-
-
-
-
3Gain-
PIP5K1B-
-
-
-
1Loss-
PIP5KL1-
-
-
-
1Loss-
PIPOX-
-
-
-
4Gain-
PISD-
-
-
-
3Gain-
PITPNB-
-
-
-
3Gain-
PITPNC1-
-
-
-
4Gain-
PITPNM1p.R1068W
Missense
SNP
0.975
1Loss-
PITRM1-
-
-
-
3Gain-
PITX1-
-
-
-
3Gain-
PITX3-
-
-
-
1Loss-
PIWIL1p.D578N
Missense
SNP
0.437
2--
PIWIL3-
-
-
-
3Gain-
PIWIL4-
-
-
-
1Loss-
PJA2-
-
-
-
3Gain-
PKD1L1p.T1210I
p.S836F
Missense
Missense
SNP
SNP
0.738
0.555
3Gain-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
3Gain-
PKDREJ-
-
-
-
3Gain-
PKHD1p.G1321E
p.H474Y
Missense
Missense
SNP
SNP
0.502
0.544
2--
PKHD1L1p.S1184L
Missense
SNP
0.408
2--
PKM-
-
-
-
3Gain-
PKN3-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G12B-
-
-
-
3Gain-
PLA2G16-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4D-
-
-
-
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
3Gain-
PLA2G6-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAC8L1-
-
-
-
3Gain-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
3Gain-
PLB1p.M1189I
Missense
SNP
0.476
2--
PLCB1p.G638E
Missense
SNP
0.459
2--
PLCB2-
-
-
-
3Gain-
PLCB3-
-
-
-
1Loss-
PLCD3-
-
-
-
4Gain-
PLCE1p.R321Q
p.R1969Q
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
PLCH1p.E458K
p.H82Y
p.E79K
Missense
Missense
Missense
SNP
SNP
SNP
0.482
0.526
0.543
2--
PLCL2p.E586K
Missense
SNP
0.503
2--
PLCXD3-
-
-
-
1Loss-
PLD4-
-
-
-
3Gain-
PLEKp.E34K
Missense
SNP
0.512
2--
PLEK2-
-
-
-
3Gain-
PLEKHA1-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHB1-
-
-
-
1Loss-
PLEKHD1-
-
-
-
3Gain-
PLEKHG1p.P544S
Missense
SNP
0.538
2--
PLEKHG3-
-
-
-
3Gain-
PLEKHG4Bp.E523K
Missense
SNP
1.000
1Loss-
PLEKHH1-
-
-
-
3Gain-
PLEKHH3-
-
-
-
4Gain-
PLEKHM1-
-
-
-
4Gain-
PLEKHO2-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLGp.E58Q
Missense
SNP
0.431
2--
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
3Gain-
PLIN2-
-
-
-
1Loss-
PLK2p.P249S
Missense
SNP
1.000
1Loss-
PLOD3-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
1Loss-
PLTPp.Q147L
Missense
SNP
0.477
2--
PLXDC1-
-
-
-
4Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA4p.S945F
p.H491Y
p.P423S
Missense
Missense
Missense
SNP
SNP
SNP
0.299
0.636
0.650
3Gain-
PLXNB2p.S629F
Missense
SNP
0.344
3Gain-
PMEPA1p.G155E
Missense
SNP
0.491
2--
PML-
-
-
-
3Gain-
PMM1-
-
-
-
3Gain-
PMPCA-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3p.E203K
Missense
SNP
1.000
1Loss-
PNMA1-
-
-
-
3Gain-
PNMT-
-
-
-
4Gain-
PNN-
-
-
-
3Gain-
PNP-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPLA7-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNPO-
-
-
-
4Gain-
POC5-
-
-
-
1Loss-
PODNp.E330K
Missense
SNP
0.512
2--
PODXLp.E437K
Missense
SNP
0.684
3Gain-
POLA2-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLDIP2-
-
-
-
4Gain-
POLDIP3-
-
-
-
3Gain-
POLE2-
-
-
-
3Gain-
POLE3-
-
-
-
1Loss-
POLG-
-
-
-
3Gain-
POLG2-
-
-
-
4Gain-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLQp.H1714Y
Missense
SNP
0.505
2--
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3A-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3H-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMT1-
-
-
-
1Loss-
POMT2-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU4F3-
-
-
-
3Gain-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PP2D1p.R35K
Missense
SNP
0.453
2--
PPA1-
-
-
-
3Gain-
PPARA-
-
-
-
3Gain-
PPARGC1Ap.S337F
Missense
SNP
0.400
2--
PPARGC1Bp.P385S
Missense
SNP
0.583
3Gain-
PPBPp.P9S
Missense
SNP
0.402
2--
PPCDC-
-
-
-
3Gain-
PPFIA1-
-
-
-
1Loss-
PPFIA2p.G1208R
Missense
SNP
0.480
2--
PPFIBP2p.P860L
Missense
SNP
0.992
1Loss-
PPIA-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIC-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIL2-
-
-
-
3Gain-
PPIP5K1-
-
-
-
3Gain-
PPIP5K2-
-
-
-
1Loss-
PPM1A-
-
-
-
3Gain-
PPM1D-
-
-
-
4Gain-
PPM1E-
-
-
-
4Gain-
PPM1F-
-
-
-
3Gain-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1R13Bp.R194C
Missense
SNP
0.625
3Gain-
PPP1R14B-
-
-
-
1Loss-
PPP1R14D-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R1B-
-
-
-
4Gain-
PPP1R26-
-
-
-
1Loss-
PPP1R27-
-
-
-
4Gain-
PPP1R2B-
-
-
-
3Gain-
PPP1R2P3p.S162L
Missense
SNP
0.326
NDND-
PPP1R32-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R36-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R3E-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP1R9B-
-
-
-
4Gain-
PPP2CA-
-
-
-
3Gain-
PPP2R1B-
-
-
-
1Loss-
PPP2R2B-
-
-
-
3Gain-
PPP2R2D-
-
-
-
1Loss-
PPP2R3C-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP2R5C-
-
-
-
3Gain-
PPP2R5E-
-
-
-
3Gain-
PPP3CB-
-
-
-
3Gain-
PPP3R2-
-
-
-
1Loss-
PPP4R3A-
-
-
-
3Gain-
PPP4R4p.P86S
Missense
SNP
0.554
3Gain-
PPP6C-
-
-
-
1Loss-
PPP6R2-
-
-
-
3Gain-
PPP6R3-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PPY-
-
-
-
4Gain-
PRAC1-
-
-
-
4Gain-
PRAC2-
-
-
-
4Gain-
PRAME-
-
-
-
3Gain-
PRAMEF20p.R94C
Missense
SNP
0.456
2--
PRAP1-
-
-
-
1Loss-
PRB3p.R95C
Missense
SNP
0.359
2--
PRC1-
-
-
-
3Gain-
PRCD-
-
-
-
4Gain-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM11-
-
-
-
1Loss-
PRDM12-
-
-
-
1Loss-
PRDM2p.P991S
Missense
SNP
0.474
2--
PRDM6-
-
-
-
3Gain-
PRDM9p.G257R
Missense
SNP
1.000
1Loss-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PREBp.T347M
Missense
SNP
0.455
2--
PRELID1-
-
-
-
3Gain-
PRELID2-
-
-
-
3Gain-
PREX2p.R1149C
Missense
SNP
0.435
2--
PRF1-
-
-
-
3Gain-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRIMA1-
-
-
-
3Gain-
PRKAA1-
-
-
-
1Loss-
PRKACG-
-
-
-
1Loss-
PRKAG2-
-
-
-
3Gain-
PRKAR1A-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCA-
-
-
-
4Gain-
PRKCBp.E656K
Missense
SNP
0.496
2--
PRKCH-
-
-
-
3Gain-
PRKCQ-
-
-
-
3Gain-
PRKD1-
-
-
-
3Gain-
PRKG1-
-
-
-
3Gain-
PRKG2p.E413K
Missense
SNP
0.495
2--
PRKRIP1-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLRp.R171*
Nonsense
SNP
1.000
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
3Gain-
PROB1-
-
-
-
3Gain-
PROCA1-
-
-
-
4Gain-
PRODH-
-
-
-
3Gain-
PROP1-
-
-
-
3Gain-
PROS1p.R316C
Missense
SNP
0.495
2--
PROSER2-
-
-
-
3Gain-
PROX2-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF19-
-
-
-
1Loss-
PRPF39-
-
-
-
3Gain-
PRPF4-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP1-
-
-
-
4Gain-
PRR11-
-
-
-
4Gain-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR15L-
-
-
-
4Gain-
PRR16-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR29-
-
-
-
4Gain-
PRR33-
-
-
-
1Loss-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR5L-
-
-
-
1Loss-
PRR7-
-
-
-
3Gain-
PRRC1-
-
-
-
3Gain-
PRRC2Ap.H226Y
Missense
SNP
0.428
2--
PRRC2B-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT1B-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRRX2-
-
-
-
1Loss-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS23-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS37p.V86I
Missense
SNP
0.317
3Gain-
PRSS38-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRTG-
-
-
-
3Gain-
PRUNE2p.G783E
Missense
SNP
0.989
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2C-
-
-
-
1Loss-
PSAP-
-
-
-
3Gain-
PSAT1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
3Gain-
PSEN1-
-
-
-
3Gain-
PSEN2-
-
-
-
1Loss-
PSG1-
-
-
-
0Del-
PSG11-
-
-
-
0Del-
PSG6-
-
-
-
0Del-
PSG7-
-
-
-
0Del-
PSIP1-
-
-
-
1Loss-
PSKH2p.M137I
Missense
SNP
0.507
2--
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA3-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMA6-
-
-
-
3Gain-
PSMB11-
-
-
-
3Gain-
PSMB3-
-
-
-
4Gain-
PSMB5-
-
-
-
3Gain-
PSMB7-
-
-
-
1Loss-
PSMC1-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMC3-
-
-
-
1Loss-
PSMC3IP-
-
-
-
4Gain-
PSMC5-
-
-
-
4Gain-
PSMC6-
-
-
-
3Gain-
PSMD11-
-
-
-
4Gain-
PSMD12-
-
-
-
4Gain-
PSMD13-
-
-
-
1Loss-
PSMD3-
-
-
-
4Gain-
PSMD5-
-
-
-
1Loss-
PSME1-
-
-
-
3Gain-
PSME2-
-
-
-
3Gain-
PSME3-
-
-
-
4Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
3Gain-
PTAR1-
-
-
-
1Loss-
PTBP3-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
1Loss-
PTCHD3p.L450F
Missense
SNP
0.358
3Gain-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDR-
-
-
-
3Gain-
PTGDR2-
-
-
-
1Loss-
PTGDS-
-
-
-
1Loss-
PTGER2-
-
-
-
3Gain-
PTGER4-
-
-
-
1Loss-
PTGES-
-
-
-
1Loss-
PTGES2-
-
-
-
1Loss-
PTGES3L-
-
-
-
4Gain-
PTGES3L-AARSD1-
-
-
-
4Gain-
PTGISp.E265K
Missense
SNP
0.498
2--
PTGR1-
-
-
-
1Loss-
PTGR2-
-
-
-
3Gain-
PTGS1-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTPA-
-
-
-
1Loss-
PTPDC1-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPN21-
-
-
-
3Gain-
PTPN22p.P618S
p.P563S
Missense
Missense
SNP
SNP
0.373
0.475
2--
PTPN3-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPN6p.R407W
Missense
SNP
0.462
2--
PTPN9-
-
-
-
3Gain-
PTPRAp.P63L
Missense
SNP
0.511
2--
PTPRBp.D1958N
p.E1812K
p.S439F
Missense
Missense
Missense
SNP
SNP
SNP
0.482
0.425
0.433
2--
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRE-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRN2p.E748K
p.S290L
Missense
Missense
SNP
SNP
0.248
0.304
3Gain-
PTPRQp.G1322E
Missense
SNP
0.454
2--
PTPRTp.G812R
p.E511K
Missense
Missense
SNP
SNP
0.480
0.406
2--
PTPRZ1p.H2006Y
Missense
SNP
0.681
3Gain-
PTRH1-
-
-
-
1Loss-
PTRH2-
-
-
-
4Gain-
PTS-
-
-
-
1Loss-
PTTG1p.G79R
Missense
SNP
0.274
3Gain-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PVALB-
-
-
-
3Gain-
PVALEF-
-
-
-
4Gain-
PVRIG-
-
-
-
3Gain-
PWWP2A-
-
-
-
3Gain-
PWWP2B-
-
-
-
0Del-
PXDNp.P1105L
Missense
SNP
0.436
2--
PYCR1-
-
-
-
4Gain-
PYCR2-
-
-
-
1Loss-
PYGL-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYGO1-
-
-
-
3Gain-
PYHIN1p.P294S
Missense
SNP
0.487
2--
PYROXD2-
-
-
-
1Loss-
PYY-
-
-
-
4Gain-
QRFP-
-
-
-
1Loss-
QRICH2-
-
-
-
4Gain-
QSER1-
-
-
-
1Loss-
QSOX2-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
RAB11A-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
4Gain-
RAB14-
-
-
-
1Loss-
RAB15-
-
-
-
3Gain-
RAB18-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB1B-
-
-
-
1Loss-
RAB24-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB2B-
-
-
-
3Gain-
RAB30-
-
-
-
1Loss-
RAB34-
-
-
-
4Gain-
RAB36-
-
-
-
3Gain-
RAB37-
-
-
-
4Gain-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3IL1-
-
-
-
1Loss-
RAB3IPp.P83L
Missense
SNP
0.472
2--
RAB40B-
-
-
-
4Gain-
RAB5C-
-
-
-
4Gain-
RAB6A-
-
-
-
1Loss-
RAB8Bp.R203C
Missense
SNP
0.602
3Gain-
RABEPK-
-
-
-
1Loss-
RABGAP1-
-
-
-
1Loss-
RABGEF1p.P343L
Missense
DNP
0.263
3Gain-
RABGGTA-
-
-
-
3Gain-
RABL2B-
-
-
-
3Gain-
RABL6-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RAC3-
-
-
-
4Gain-
RACK1-
-
-
-
3Gain-
RAD1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD23B-
-
-
-
1Loss-
RAD50-
-
-
-
3Gain-
RAD51-
-
-
-
3Gain-
RAD51AP2p.S324F
p.D313N
Missense
Missense
SNP
SNP
0.449
0.551
2--
RAD51B-
-
-
-
3Gain-
RAD51C-
-
-
-
4Gain-
RAD51D-
-
-
-
4Gain-
RAD51L3-RFFL-
-
-
-
4Gain-
RAD9A-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1p.E1130*
Nonsense
SNP
1.000
2--
RAI14-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA1-
-
-
-
3Gain-
RALGDS-
-
-
-
1Loss-
RALGPS1p.R165*
Nonsense
SNP
1.000
1Loss-
RAMAC-
-
-
-
3Gain-
RAMP2-
-
-
-
4Gain-
RAMP3-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP17-
-
-
-
3Gain-
RANBP3L-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANGAP1-
-
-
-
3Gain-
RAPGEF1-
-
-
-
1Loss-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
3Gain-
RAPGEFL1-
-
-
-
4Gain-
RAPSN-
-
-
-
1Loss-
RARA-
-
-
-
4Gain-
RARBp.P74L
Missense
SNP
0.479
2--
RARRES2-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
3Gain-
RASA1-
-
-
-
1Loss-
RASA3p.S562L
Missense
SNP
0.309
2--
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1p.D753N
Missense
SNP
0.460
2--
RASD2-
-
-
-
3Gain-
RASEF-
-
-
-
1Loss-
RASGEF1A-
-
-
-
3Gain-
RASGEF1Bp.E116K
Missense
SNP
0.600
2--
RASGEF1C-
-
-
-
3Gain-
RASGRF1p.E991K
Missense
SNP
0.326
3Gain-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
3Gain-
RASGRP2-
-
-
-
1Loss-
RASL10A-
-
-
-
3Gain-
RASL10B-
-
-
-
4Gain-
RASL12-
-
-
-
3Gain-
RASSF10-
-
-
-
1Loss-
RASSF2p.R150C
Missense
SNP
0.516
2--
RASSF4-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RASSF9p.E363K
Missense
SNP
0.537
2--
RB1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBFOX2-
-
-
-
3Gain-
RBFOX3-
-
-
-
4Gain-
RBL1p.R159Q
Missense
SNP
0.413
2--
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM18-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
3Gain-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
3Gain-
RBM27-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM4-
-
-
-
1Loss-
RBM46p.R184C
Missense
SNP
0.457
2--
RBM48-
-
-
-
3Gain-
RBM4B-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
3Gain-
RBP4-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RBX1-
-
-
-
3Gain-
RC3H2-
-
-
-
1Loss-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCN2-
-
-
-
3Gain-
RCOR1-
-
-
-
3Gain-
RCOR2-
-
-
-
1Loss-
RCSD1p.E341K
Missense
SNP
0.486
2--
RD3L-
-
-
-
3Gain-
RDH11-
-
-
-
3Gain-
RDH12p.D187N
Missense
SNP
0.560
3Gain-
RDM1-
-
-
-
4Gain-
RDX-
-
-
-
1Loss-
REC114-
-
-
-
3Gain-
REC8-
-
-
-
3Gain-
RECQL5-
-
-
-
4Gain-
REEP2-
-
-
-
3Gain-
REEP3-
-
-
-
3Gain-
REEP5-
-
-
-
3Gain-
RELA-
-
-
-
1Loss-
RELL1p.R87C
Missense
SNP
0.444
2--
RELL2-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
RELT-
-
-
-
1Loss-
REM2-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RERGLp.R131Q
Missense
SNP
0.423
2--
RET-
-
-
-
3Gain-
RETREG1-
-
-
-
1Loss-
RETREG3-
-
-
-
4Gain-
REXO2-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
4Gain-
RFK-
-
-
-
1Loss-
RFNG-
-
-
-
4Gain-
RFPL1p.E315K
Missense
SNP
0.225
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFX3-
-
-
-
1Loss-
RFX7-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGMB-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGR-
-
-
-
1Loss-
RGS1-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS13-
-
-
-
1Loss-
RGS14-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
1Loss-
RGS21-
-
-
-
3Gain-
RGS22p.M189I
Missense
SNP
0.484
2--
RGS3-
-
-
-
1Loss-
RGS6-
-
-
-
3Gain-
RGS7p.E383K
Missense
SNP
0.520
2--
RGS7BPp.E157K
Missense
SNP
1.000
1Loss-
RGS9-
-
-
-
4Gain-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
3Gain-
RHBDF2-
-
-
-
4Gain-
RHBDL3-
-
-
-
4Gain-
RHCG-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHOBTB1-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOD-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOJ-
-
-
-
3Gain-
RHOT1-
-
-
-
4Gain-
RHOV-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTOR-
-
-
-
1Loss-
RIMS2p.E178K
Missense
SNP
0.532
2--
RIN1-
-
-
-
1Loss-
RIN3-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOX1-
-
-
-
3Gain-
RIPK3-
-
-
-
3Gain-
RLBP1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN3-
-
-
-
3Gain-
RMI1-
-
-
-
1Loss-
RMND5B-
-
-
-
3Gain-
RNASE1p.S51F
Missense
SNP
0.660
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEH2B-
-
-
-
3Gain-
RNASEH2C-
-
-
-
1Loss-
RND2-
-
-
-
4Gain-
RNF111-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF130-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF135-
-
-
-
4Gain-
RNF14-
-
-
-
3Gain-
RNF141-
-
-
-
1Loss-
RNF145-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF157-
-
-
-
4Gain-
RNF169-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF183-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF20-
-
-
-
1Loss-
RNF208-
-
-
-
1Loss-
RNF212B-
-
-
-
3Gain-
RNF213-
-
-
-
4Gain-
RNF214-
-
-
-
1Loss-
RNF215-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF219p.P389L
Missense
SNP
0.360
2--
RNF220p.D204N
Missense
SNP
0.524
2--
RNF224-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF31-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF43-
-
-
-
4Gain-
RNF44-
-
-
-
3Gain-
RNF8p.P134L
Missense
SNP
0.475
2--
RNFT1-
-
-
-
4Gain-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
ROBO1p.P1072L
Missense
SNP
0.523
2--
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROM1-
-
-
-
1Loss-
ROPN1L-
-
-
-
1Loss-
ROR2-
-
-
-
1Loss-
RORA-
-
-
-
3Gain-
RORB-
-
-
-
1Loss-
RP1p.E551K
p.S1124L
p.D1371N
p.S1661F
p.Q1061*
Missense
Missense
Missense
Missense
Nonsense
SNP
SNP
SNP
SNP
SNP
0.480
0.433
0.520
0.410
0.588
2--
RP11-310K10.1p.D643N
p.R200T
Missense
Missense
SNP
SNP
0.388
0.623
NDND-
RP1L1p.G360R
Missense
SNP
0.524
2--
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP1-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
3Gain-
RPH3Ap.S243L
p.R447C
Missense
Missense
SNP
SNP
0.446
0.514
2--
RPL10L-
-
-
-
3Gain-
RPL12-
-
-
-
1Loss-
RPL19-
-
-
-
4Gain-
RPL23-
-
-
-
4Gain-
RPL23A-
-
-
-
4Gain-
RPL26L1-
-
-
-
3Gain-
RPL27-
-
-
-
4Gain-
RPL27A-
-
-
-
1Loss-
RPL3-
-
-
-
3Gain-
RPL35-
-
-
-
1Loss-
RPL36AL-
-
-
-
3Gain-
RPL37-
-
-
-
1Loss-
RPL38-
-
-
-
4Gain-
RPL4-
-
-
-
3Gain-
RPL7A-
-
-
-
1Loss-
RPLP1-
-
-
-
3Gain-
RPLP2-
-
-
-
1Loss-
RPP25-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRML-
-
-
-
4Gain-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
3Gain-
RPS17-
-
-
-
3Gain-
RPS19BP1-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27L-
-
-
-
3Gain-
RPS29-
-
-
-
3Gain-
RPS3-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KA5-
-
-
-
3Gain-
RPS6KB1-
-
-
-
4Gain-
RPS6KB2-
-
-
-
1Loss-
RPS6KL1-
-
-
-
3Gain-
RPTOR-
-
-
-
4Gain-
RPUSD2-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP15-
-
-
-
1Loss-
RRP7A-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSAD1-
-
-
-
4Gain-
RSBN1L-
-
-
-
3Gain-
RSF1-
-
-
-
1Loss-
RSL24D1-
-
-
-
3Gain-
RSPH1p.G69E
Missense
SNP
1.000
2--
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTCAp.F160C
Missense
SNP
0.548
2--
RTCB-
-
-
-
3Gain-
RTF1-
-
-
-
3Gain-
RTKN2-
-
-
-
3Gain-
RTL1p.E87K
Missense
SNP
0.350
3Gain-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN1-
-
-
-
3Gain-
RTN3-
-
-
-
1Loss-
RTN4R-
-
-
-
3Gain-
RTN4RL2-
-
-
-
1Loss-
RTRAF-
-
-
-
3Gain-
RUBCNL-
-
-
-
3Gain-
RUFY1-
-
-
-
3Gain-
RUFY2-
-
-
-
3Gain-
RUFY4p.V339A
Missense
SNP
0.527
2--
RUNDC1-
-
-
-
4Gain-
RUNDC3A-
-
-
-
4Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1p.P113L
Missense
SNP
0.385
2--
RXFP3-
-
-
-
1Loss-
RXRA-
-
-
-
1Loss-
RYR1p.E4120K
Missense
SNP
0.961
2--
RYR2p.E3424K
Missense
SNP
0.536
2--
RYR3-
-
-
-
3Gain-
S100Z-
-
-
-
1Loss-
S1PR3-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
1Loss-
SALL2p.R1000Q
Missense
SNP
0.603
3Gain-
SALL3p.P648S
Missense
SNP
0.564
2--
SAMD14-
-
-
-
4Gain-
SAMD15-
-
-
-
3Gain-
SAMD4A-
-
-
-
3Gain-
SAMD7p.R110K
Missense
SNP
0.543
2--
SAMD8-
-
-
-
3Gain-
SAMD9p.P466S
Missense
SNP
0.284
3Gain-
SAMD9Lp.H741L
Missense
SNP
0.630
3Gain-
SAMM50-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SAP30BP-
-
-
-
4Gain-
SAP30L-
-
-
-
3Gain-
SAPCD2-
-
-
-
1Loss-
SAR1A-
-
-
-
3Gain-
SAR1B-
-
-
-
3Gain-
SARDH-
-
-
-
1Loss-
SARM1-
-
-
-
4Gain-
SART1-
-
-
-
1Loss-
SAV1-
-
-
-
3Gain-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBK2p.E64K
Missense
SNP
1.000
2--
SC5D-
-
-
-
1Loss-
SCAI-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAPER-
-
-
-
3Gain-
SCARA3p.E243K
Missense
SNP
0.473
2--
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCFD1-
-
-
-
3Gain-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
3Gain-
SCGB1A1-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
3Gain-
SCGB3A2-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCN10Ap.E1826K
Missense
SNP
0.522
2--
SCN11Ap.E1732K
p.S757F
Missense
Missense
SNP
SNP
0.525
0.455
2--
SCN1Ap.R1912Q
Missense
SNP
0.480
2--
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4Ap.L593F
Missense
SNP
0.503
4Gain-
SCN4B-
-
-
-
1Loss-
SCN5Ap.A1581V
Missense
SNP
0.500
2--
SCN7Ap.Q1429*
p.M371I
Nonsense
Missense
SNP
SNP
0.530
0.514
2--
SCN9Ap.D1571N
p.D573N
Missense
Missense
SNP
SNP
0.373
0.541
2--
SCNN1Gp.S323F
Missense
SNP
0.469
2--
SCO2-
-
-
-
3Gain-
SCPEP1-
-
-
-
4Gain-
SCRN1-
-
-
-
3Gain-
SCRN2-
-
-
-
4Gain-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDE2-
-
-
-
1Loss-
SDF2-
-
-
-
4Gain-
SDF2L1-
-
-
-
3Gain-
SDHA-
-
-
-
1Loss-
SDHAF2-
-
-
-
1Loss-
SDHAF3-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1p.S1017F
Missense
SNP
0.709
3Gain-
SDK2-
-
-
-
4Gain-
SDR39U1-
-
-
-
3Gain-
SEBOX-
-
-
-
4Gain-
SEC11A-
-
-
-
3Gain-
SEC14L1-
-
-
-
4Gain-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L5p.D633N
Missense
SNP
0.482
2--
SEC14L6-
-
-
-
3Gain-
SEC16A-
-
-
-
1Loss-
SEC23A-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
3Gain-
SEC24Bp.R1059W
Missense
SNP
0.505
2--
SEC24C-
-
-
-
3Gain-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SECISBP2-
-
-
-
1Loss-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
4Gain-
SEL1L-
-
-
-
3Gain-
SELENOH-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SELENOP-
-
-
-
1Loss-
SELENOS-
-
-
-
3Gain-
SELPp.G333E
p.G248R
Missense
Missense
SNP
SNP
0.479
0.479
2--
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3Cp.P371S
Missense
SNP
0.696
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA4D-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
1Loss-
SEMA5Bp.E826K
Missense
SNP
0.496
2--
SEMA6A-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMA7A-
-
-
-
3Gain-
SENP8-
-
-
-
3Gain-
SEPHS1-
-
-
-
3Gain-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
3Gain-
SEPT4-
-
-
-
4Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
3Gain-
SEPT9-
-
-
-
4Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
3Gain-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
3Gain-
SERINC4-
-
-
-
3Gain-
SERINC5-
-
-
-
1Loss-
SERPINA1-
-
-
-
3Gain-
SERPINA10p.R284C
Missense
SNP
0.365
3Gain-
SERPINA11-
-
-
-
3Gain-
SERPINA12p.R302K
Missense
SNP
0.630
3Gain-
SERPINA3-
-
-
-
3Gain-
SERPINA4-
-
-
-
3Gain-
SERPINA5-
-
-
-
3Gain-
SERPINA6-
-
-
-
3Gain-
SERPINA7p.L39F
Missense
SNP
1.000
NDND-
SERPINA9-
-
-
-
3Gain-
SERPINB4p.R374M
p.X118_splice
p.S33N
Missense
Splice_Site
Missense
SNP
SNP
SNP
0.393
0.451
0.404
2--
SERPIND1-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERPINE3-
-
-
-
3Gain-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI2p.G397E
Missense
SNP
0.323
2--
SERTM1p.S75F
Missense
SNP
0.336
2--
SESN3-
-
-
-
1Loss-
SET-
-
-
-
1Loss-
SETD3-
-
-
-
3Gain-
SETD9-
-
-
-
1Loss-
SETDB2-
-
-
-
3Gain-
SETX-
-
-
-
1Loss-
SEZ6-
-
-
-
4Gain-
SEZ6L-
-
-
-
3Gain-
SF1-
-
-
-
1Loss-
SF3A1-
-
-
-
3Gain-
SF3B2-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP2p.D150N
Missense
SNP
0.495
2--
SFRP4-
-
-
-
3Gain-
SFRP5-
-
-
-
1Loss-
SFTA3-
-
-
-
3Gain-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN1-
-
-
-
3Gain-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCA-
-
-
-
4Gain-
SGCD-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGCZp.P102L
Missense
SNP
0.444
2--
SGK494-
-
-
-
4Gain-
SGMS1-
-
-
-
3Gain-
SGPL1-
-
-
-
3Gain-
SGPP1-
-
-
-
3Gain-
SGSHp.E447K
Missense
SNP
0.516
4Gain-
SGSM1p.D86N
Missense
SNP
0.457
3Gain-
SGSM3-
-
-
-
3Gain-
SGTB-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D3C-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D7-
-
-
-
3Gain-
SH3BP1-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3GLB1p.R90C
Missense
SNP
0.384
2--
SH3GLB2-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
3Gain-
SH3RF2-
-
-
-
3Gain-
SH3TC2-
-
-
-
3Gain-
SH3YL1p.S314L
Missense
SNP
0.495
2--
SHANK2-
-
-
-
1Loss-
SHANK3-
-
-
-
3Gain-
SHC3-
-
-
-
1Loss-
SHC4-
-
-
-
3Gain-
SHF-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA8-
-
-
-
3Gain-
SHISA9p.H231Y
Missense
SNP
0.472
2--
SHISAL1-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHROOM1-
-
-
-
3Gain-
SHTN1-
-
-
-
1Loss-
SIp.P1252S
Missense
SNP
0.451
2--
SIAE-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC1p.S473F
Missense
SNP
0.478
2--
SIGLEC12p.E538K
Missense
SNP
0.970
2--
SIGLEC9p.T223I
Missense
SNP
0.964
2--
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIL1-
-
-
-
3Gain-
SIM1p.S433L
Missense
SNP
0.483
2--
SIMC1-
-
-
-
3Gain-
SIN3A-
-
-
-
3Gain-
SIPA1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
3Gain-
SIPA1L2-
-
-
-
1Loss-
SIRT1-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT7-
-
-
-
4Gain-
SIVA1-
-
-
-
3Gain-
SIX1-
-
-
-
3Gain-
SIX4-
-
-
-
3Gain-
SIX6-
-
-
-
3Gain-
SKA2-
-
-
-
4Gain-
SKAP1p.D234N
Missense
SNP
0.540
4Gain-
SKAP2-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKILp.R237Q
Missense
SNP
0.504
2--
SKOR1-
-
-
-
3Gain-
SKP1-
-
-
-
3Gain-
SKP2-
-
-
-
1Loss-
SLAMF7p.N204Y
Missense
SNP
0.345
2--
SLC10A1-
-
-
-
3Gain-
SLC12A1-
-
-
-
3Gain-
SLC12A2-
-
-
-
3Gain-
SLC12A3p.D931N
Missense
SNP
0.498
2--
SLC12A6-
-
-
-
3Gain-
SLC12A7-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A2-
-
-
-
4Gain-
SLC13A3p.S446L
Missense
SNP
0.505
2--
SLC13A4-
-
-
-
3Gain-
SLC15A3-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A14p.R314Q
Missense
SNP
0.463
2--
SLC16A3-
-
-
-
4Gain-
SLC16A5p.P204L
Missense
SNP
0.496
4Gain-
SLC16A6p.H517Y
p.P79L
Missense
Missense
SNP
SNP
0.455
0.492
4Gain-
SLC16A8-
-
-
-
3Gain-
SLC16A9-
-
-
-
3Gain-
SLC17A6-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
1Loss-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12p.D55N
Missense
SNP
0.994
1Loss-
SLC22A16p.R300Q
Missense
SNP
0.500
2--
SLC22A17-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A4-
-
-
-
3Gain-
SLC22A5-
-
-
-
3Gain-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A1-
-
-
-
3Gain-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
3Gain-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A10-
-
-
-
4Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A16-
-
-
-
3Gain-
SLC25A17-
-
-
-
3Gain-
SLC25A19-
-
-
-
4Gain-
SLC25A2-
-
-
-
3Gain-
SLC25A21-
-
-
-
3Gain-
SLC25A22-
-
-
-
1Loss-
SLC25A25-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A39-
-
-
-
4Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC25A46-
-
-
-
3Gain-
SLC25A47-
-
-
-
3Gain-
SLC25A48-
-
-
-
3Gain-
SLC26A11-
-
-
-
4Gain-
SLC26A2-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4p.D772N
Missense
SNP
0.193
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A4-
-
-
-
1Loss-
SLC27A6-
-
-
-
3Gain-
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
3Gain-
SLC28A3-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A11-
-
-
-
3Gain-
SLC2A6-
-
-
-
1Loss-
SLC2A8-
-
-
-
1Loss-
SLC30A10-
-
-
-
1Loss-
SLC30A4-
-
-
-
3Gain-
SLC30A5-
-
-
-
1Loss-
SLC31A1-
-
-
-
1Loss-
SLC31A2-
-
-
-
1Loss-
SLC34A1p.A128V
Missense
SNP
0.362
3Gain-
SLC34A3-
-
-
-
1Loss-
SLC35A4-
-
-
-
3Gain-
SLC35B1-
-
-
-
4Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35D2-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35F3p.G118E
Missense
SNP
1.000
1Loss-
SLC35F4-
-
-
-
3Gain-
SLC35F5p.S180N
Missense
SNP
0.536
2--
SLC35G1-
-
-
-
1Loss-
SLC35G3-
-
-
-
4Gain-
SLC36A1-
-
-
-
3Gain-
SLC36A2-
-
-
-
3Gain-
SLC36A3-
-
-
-
3Gain-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A10-
-
-
-
4Gain-
SLC38A6-
-
-
-
3Gain-
SLC38A9-
-
-
-
1Loss-
SLC39A11-
-
-
-
4Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A2-
-
-
-
3Gain-
SLC39A4p.G172R
Missense
SNP
0.460
2--
SLC39A8p.H111Q
Missense
SNP
0.426
2--
SLC39A9-
-
-
-
3Gain-
SLC3A2-
-
-
-
1Loss-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
1Loss-
SLC46A1p.M89I
Missense
SNP
0.506
4Gain-
SLC46A2-
-
-
-
1Loss-
SLC4A1p.G270E
Missense
SNP
0.489
4Gain-
SLC4A10p.G287R
p.D971N
Missense
Missense
SNP
SNP
0.563
0.532
2--
SLC4A2-
-
-
-
3Gain-
SLC4A9-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC5A1-
-
-
-
3Gain-
SLC5A12-
-
-
-
1Loss-
SLC5A4-
-
-
-
3Gain-
SLC5A8p.G545E
p.G536E
Missense
Missense
SNP
SNP
0.594
0.519
2--
SLC6A1p.E596K
Missense
SNP
0.483
2--
SLC6A13p.L421F
Missense
SNP
0.457
2--
SLC6A18-
-
-
-
1Loss-
SLC6A19-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A4-
-
-
-
4Gain-
SLC6A5-
-
-
-
1Loss-
SLC6A7-
-
-
-
3Gain-
SLC7A2p.S162L
Missense
SNP
0.434
2--
SLC7A4-
-
-
-
3Gain-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC8A1p.S70F
Missense
SNP
0.476
2--
SLC8A3-
-
-
-
3Gain-
SLC9A3-
-
-
-
1Loss-
SLC9A3R1-
-
-
-
4Gain-
SLC9C1p.G906R
Missense
SNP
0.522
2--
SLCO1C1p.G546E
p.H697Y
Missense
Missense
SNP
SNP
0.498
0.404
2--
SLCO2B1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
4Gain-
SLFN12-
-
-
-
4Gain-
SLFN12L-
-
-
-
4Gain-
SLFN13-
-
-
-
4Gain-
SLFN14-
-
-
-
4Gain-
SLFN5-
-
-
-
4Gain-
SLIRP-
-
-
-
3Gain-
SLIT1-
-
-
-
1Loss-
SLIT3p.N663S
Missense
SNP
0.658
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK2p.R102*
Nonsense
SNP
1.000
NDND-
SLITRK3p.P650L
Missense
SNP
0.562
2--
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLTM-
-
-
-
3Gain-
SLU7-
-
-
-
3Gain-
SMAD3-
-
-
-
3Gain-
SMAD5-
-
-
-
3Gain-
SMAD6-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCD2-
-
-
-
4Gain-
SMARCD3-
-
-
-
3Gain-
SMARCE1-
-
-
-
4Gain-
SMC1Bp.E840K
Missense
SNP
0.328
3Gain-
SMC2-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMC5-
-
-
-
1Loss-
SMC6p.S10F
Missense
SNP
0.467
2--
SMCO4-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMG8-
-
-
-
4Gain-
SMIM15-
-
-
-
1Loss-
SMIM23-
-
-
-
3Gain-
SMIM27-
-
-
-
1Loss-
SMIM3-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
3Gain-
SMIM33-
-
-
-
3Gain-
SMIM5-
-
-
-
4Gain-
SMIM6-
-
-
-
4Gain-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMPDL3Bp.S50F
Missense
SNP
0.523
2--
SMTN-
-
-
-
3Gain-
SMTNL1p.P30S
p.S120F
Missense
Missense
SNP
SNP
0.992
0.979
1Loss-
SMU1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMURF2-
-
-
-
4Gain-
SMYD3p.S317F
Missense
SNP
0.484
2--
SNAP23-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
1Loss-
SNAPC1-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC4-
-
-
-
1Loss-
SNAPC5-
-
-
-
3Gain-
SNCAIPp.H472Y
Missense
SNP
0.690
3Gain-
SNCB-
-
-
-
3Gain-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNED1p.R985Q
Missense
SNP
0.478
2--
SNF8-
-
-
-
4Gain-
SNRPA1-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPN-
-
-
-
3Gain-
SNTB1p.Q287*
Nonsense
SNP
0.367
2--
SNTG1p.G419R
Missense
SNP
0.500
2--
SNU13-
-
-
-
3Gain-
SNUPN-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNW1-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX11-
-
-
-
4Gain-
SNX13-
-
-
-
3Gain-
SNX15-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
3Gain-
SNX22-
-
-
-
3Gain-
SNX24-
-
-
-
3Gain-
SNX30-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX33-
-
-
-
3Gain-
SNX6-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOCS3-
-
-
-
4Gain-
SOCS4-
-
-
-
3Gain-
SOCS7-
-
-
-
4Gain-
SOHLH1-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS2p.E612K
Missense
SNP
0.539
2--
SORCS1p.D1041N
Missense
SNP
1.000
1Loss-
SORCS3-
-
-
-
1Loss-
SORD-
-
-
-
3Gain-
SORL1-
-
-
-
1Loss-
SOS2-
-
-
-
3Gain-
SOST-
-
-
-
4Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
3Gain-
SOX10-
-
-
-
3Gain-
SOX30-
-
-
-
3Gain-
SOX6-
-
-
-
1Loss-
SOX9-
-
-
-
4Gain-
SP2-
-
-
-
4Gain-
SP4-
-
-
-
3Gain-
SP6-
-
-
-
4Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA3-
-
-
-
4Gain-
SPACA9-
-
-
-
1Loss-
SPAG17p.G1407E
p.P1220S
Missense
Missense
SNP
SNP
0.488
0.445
2--
SPAG5-
-
-
-
4Gain-
SPAG6-
-
-
-
3Gain-
SPAG9-
-
-
-
4Gain-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
3Gain-
SPATA17-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA20-
-
-
-
4Gain-
SPATA24-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
0Del-
SPATA31D4-
-
-
-
0Del-
SPATA31E1-
-
-
-
1Loss-
SPATA32-
-
-
-
4Gain-
SPATA48-
-
-
-
3Gain-
SPATA5L1-
-
-
-
3Gain-
SPATA6Lp.P104S
Missense
SNP
1.000
1Loss-
SPATA7-
-
-
-
3Gain-
SPATA8-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATS1p.D52N
Missense
SNP
0.478
2--
SPCS2-
-
-
-
1Loss-
SPDL1-
-
-
-
3Gain-
SPDYC-
-
-
-
1Loss-
SPDYE3-
-
-
-
3Gain-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF2p.E1393K
Missense
SNP
1.000
1Loss-
SPEGp.S2541N
p.R2958*
Missense
Nonsense
SNP
SNP
0.472
0.506
2--
SPERT-
-
-
-
3Gain-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPHK1-
-
-
-
4Gain-
SPHKAPp.M1558I
p.K1045R
p.A303T
Missense
Missense
Missense
SNP
SNP
SNP
0.411
0.508
0.451
2--
SPI1-
-
-
-
1Loss-
SPIN1-
-
-
-
1Loss-
SPINDOC-
-
-
-
1Loss-
SPINK1-
-
-
-
3Gain-
SPINK13-
-
-
-
3Gain-
SPINK14-
-
-
-
3Gain-
SPINK4-
-
-
-
1Loss-
SPINK5-
-
-
-
3Gain-
SPINK6-
-
-
-
3Gain-
SPINK7-
-
-
-
3Gain-
SPINK9-
-
-
-
3Gain-
SPINT1-
-
-
-
3Gain-
SPOCK1-
-
-
-
3Gain-
SPOCK2-
-
-
-
3Gain-
SPOCK3p.G366E
p.G155S
Missense
Missense
SNP
SNP
0.469
0.449
2--
SPON1-
-
-
-
1Loss-
SPOP-
-
-
-
4Gain-
SPOUT1-
-
-
-
1Loss-
SPP1p.R301C
Missense
SNP
0.570
2--
SPPL2A-
-
-
-
3Gain-
SPPL2C-
-
-
-
4Gain-
SPRED1-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRY4-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SPTAN1-
-
-
-
1Loss-
SPTBp.S1715F
p.G1575E
p.D504N
Missense
Missense
Missense
SNP
SNP
SNP
0.313
0.655
0.639
3Gain-
SPTBN1p.P603L
Missense
SNP
0.550
2--
SPTBN2-
-
-
-
1Loss-
SPTBN5-
-
-
-
3Gain-
SPTLC1-
-
-
-
1Loss-
SPTLC2-
-
-
-
3Gain-
SPTLC3p.D102N
Missense
SNP
0.479
2--
SPTSSA-
-
-
-
3Gain-
SPTY2D1-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
3Gain-
SQSTM1-
-
-
-
3Gain-
SRA1-
-
-
-
3Gain-
SRCIN1-
-
-
-
4Gain-
SRD5A1-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
3Gain-
SRGN-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRP14-
-
-
-
3Gain-
SRP19-
-
-
-
3Gain-
SRP54-
-
-
-
3Gain-
SRP68-
-
-
-
4Gain-
SRP9-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRRM2p.S417F
Missense
SNP
0.509
2--
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF1-
-
-
-
4Gain-
SRSF2-
-
-
-
4Gain-
SRSF5-
-
-
-
3Gain-
SRSF8-
-
-
-
1Loss-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSFA2p.P871L
Missense
SNP
0.493
NDND-
SSH2-
-
-
-
4Gain-
SSH3-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSNA1-
-
-
-
1Loss-
SSPO-
-
-
-
3Gain-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSTR1-
-
-
-
3Gain-
SSTR2-
-
-
-
4Gain-
SSTR3p.G343R
Missense
SNP
0.346
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST18p.G747E
Missense
SNP
0.463
2--
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GAL2p.R398C
Missense
SNP
0.457
2--
ST6GALNAC1-
-
-
-
4Gain-
ST6GALNAC2-
-
-
-
4Gain-
ST6GALNAC4-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
ST8SIA2-
-
-
-
3Gain-
ST8SIA4-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAB2p.G1919S
Missense
SNP
0.503
2--
STACp.M127I
p.G130E
p.D266N
Missense
Missense
Missense
SNP
SNP
SNP
0.488
0.473
0.465
2--
STAC2-
-
-
-
4Gain-
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD13p.E201K
Missense
SNP
0.435
2--
STARD3-
-
-
-
4Gain-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
3Gain-
STARD5-
-
-
-
3Gain-
STARD6p.G122E
Missense
SNP
0.445
2--
STARD9-
-
-
-
3Gain-
STAT3-
-
-
-
4Gain-
STAT5A-
-
-
-
4Gain-
STAT5B-
-
-
-
4Gain-
STAT6p.E623G
Missense
SNP
0.530
2--
STC2-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STH-
-
-
-
4Gain-
STIM1-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
3Gain-
STK32C-
-
-
-
0Del-
STK33-
-
-
-
1Loss-
STKLD1-
-
-
-
1Loss-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOM-
-
-
-
1Loss-
STOML1-
-
-
-
3Gain-
STON2p.E822K
Missense
SNP
0.356
3Gain-
STOX1-
-
-
-
3Gain-
STPG3-
-
-
-
1Loss-
STRA6-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRADA-
-
-
-
4Gain-
STRBP-
-
-
-
1Loss-
STRC-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STUM-
-
-
-
1Loss-
STX17-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STXBP1-
-
-
-
1Loss-
STXBP4-
-
-
-
4Gain-
STXBP6-
-
-
-
3Gain-
STYX-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
1Loss-
SUCLA2-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SULF1p.R38Q
Missense
SNP
0.491
2--
SULT4A1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUMO2-
-
-
-
4Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT16H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
4Gain-
SUPT6H-
-
-
-
4Gain-
SUPV3L1-
-
-
-
3Gain-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1-
-
-
-
1Loss-
SUSD2-
-
-
-
3Gain-
SUSD3-
-
-
-
1Loss-
SUSD6-
-
-
-
3Gain-
SUV39H2-
-
-
-
3Gain-
SUZ12-
-
-
-
4Gain-
SV2B-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVEP1p.R2526Q
p.S2388F
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
SVIL-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWAP70-
-
-
-
1Loss-
SWI5-
-
-
-
1Loss-
SWT1p.P36S
Missense
SNP
0.202
2--
SYCE1-
-
-
-
1Loss-
SYCE3-
-
-
-
3Gain-
SYK-
-
-
-
1Loss-
SYN3-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
3Gain-
SYNE1p.E952K
Missense
SNP
0.530
2--
SYNE2-
-
-
-
3Gain-
SYNE3-
-
-
-
3Gain-
SYNGR1-
-
-
-
3Gain-
SYNGR2-
-
-
-
4Gain-
SYNJ2p.D226N
p.S883F
Missense
Missense
SNP
SNP
0.499
0.538
2--
SYNJ2BP-
-
-
-
3Gain-
SYNJ2BP-COX16-
-
-
-
3Gain-
SYNM-
-
-
-
3Gain-
SYNPO-
-
-
-
3Gain-
SYNPO2p.M1002I
Missense
SNP
0.549
2--
SYNPO2L-
-
-
-
3Gain-
SYNRG-
-
-
-
4Gain-
SYPL1-
-
-
-
3Gain-
SYPL2p.E69K
Missense
SNP
0.551
2--
SYT1p.E95K
Missense
SNP
0.658
2--
SYT11p.E143K
Missense
SNP
0.488
2--
SYT12-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT15-
-
-
-
3Gain-
SYT16-
-
-
-
3Gain-
SYT17p.M415I
Missense
SNP
0.500
2--
SYT7-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
TAB1-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TAC4-
-
-
-
4Gain-
TACC2-
-
-
-
1Loss-
TACO1-
-
-
-
4Gain-
TACR2-
-
-
-
3Gain-
TADA2A-
-
-
-
4Gain-
TAF10-
-
-
-
1Loss-
TAF15-
-
-
-
4Gain-
TAF1D-
-
-
-
1Loss-
TAF1Lp.G1339E
Missense
SNP
1.000
1Loss-
TAF3-
-
-
-
3Gain-
TAF4p.R829W
Missense
SNP
0.415
2--
TAF5-
-
-
-
1Loss-
TAF6-
-
-
-
3Gain-
TAF6L-
-
-
-
1Loss-
TAF7p.Q282*
Nonsense
SNP
0.303
3Gain-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAL2-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TANC2-
-
-
-
4Gain-
TANGO2-
-
-
-
3Gain-
TAOK1p.S174F
Missense
SNP
0.474
4Gain-
TARBP1-
-
-
-
1Loss-
TARS-
-
-
-
1Loss-
TARSL2-
-
-
-
3Gain-
TAS2R1-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38p.A295V
Missense
SNP
0.652
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBATA-
-
-
-
3Gain-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D13-
-
-
-
1Loss-
TBC1D16-
-
-
-
4Gain-
TBC1D2-
-
-
-
1Loss-
TBC1D20p.X86_splice
Splice_Site
SNP
0.482
2--
TBC1D21-
-
-
-
3Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D29-
-
-
-
4Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D5p.S752F
Missense
SNP
0.527
2--
TBC1D9B-
-
-
-
3Gain-
TBCA-
-
-
-
1Loss-
TBCD-
-
-
-
4Gain-
TBCEL-
-
-
-
1Loss-
TBKBP1-
-
-
-
4Gain-
TBL2-
-
-
-
3Gain-
TBPL2-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
1Loss-
TBX2-
-
-
-
4Gain-
TBX20-
-
-
-
3Gain-
TBX21-
-
-
-
4Gain-
TBX3p.D226N
Missense
SNP
0.528
2--
TBX4-
-
-
-
4Gain-
TBXAS1-
-
-
-
3Gain-
TC2Np.E97K
Missense
SNP
0.595
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAP-
-
-
-
4Gain-
TCEB3Bp.E416K
Missense
SNP
0.554
NDND-
TCERG1-
-
-
-
3Gain-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF20-
-
-
-
3Gain-
TCF7-
-
-
-
3Gain-
TCF7L2-
-
-
-
1Loss-
TCHHp.E1364K
Missense
SNP
0.500
2--
TCIRG1-
-
-
-
1Loss-
TCL1A-
-
-
-
3Gain-
TCL1B-
-
-
-
3Gain-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
3Gain-
TCOF1-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDP1-
-
-
-
3Gain-
TDRD1-
-
-
-
1Loss-
TDRD7-
-
-
-
1Loss-
TDRD9-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TEAD2p.R295C
Missense
SNP
0.982
2--
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
3Gain-
TECTA-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDC1-
-
-
-
3Gain-
TEF-
-
-
-
3Gain-
TEFM-
-
-
-
4Gain-
TEK-
-
-
-
1Loss-
TEN1-
-
-
-
4Gain-
TEN1-CDK3-
-
-
-
4Gain-
TENM1p.P296S
Missense
SNP
1.000
NDND-
TENM2-
-
-
-
3Gain-
TENM4p.Q1046*
Nonsense
SNP
1.000
1Loss-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
1Loss-
TEP1-
-
-
-
3Gain-
TEPSIN-
-
-
-
4Gain-
TERB2-
-
-
-
3Gain-
TERT-
-
-
-
1Loss-
TESp.E33K
Missense
SNP
0.659
3Gain-
TESMIN-
-
-
-
1Loss-
TET1p.Q54*
p.R590Q
Nonsense
Missense
SNP
SNP
0.598
0.679
3Gain-
TET2p.P1889L
Missense
SNP
0.552
2--
TEX10-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX14p.S379F
Missense
SNP
0.221
4Gain-
TEX15p.E1042K
Missense
SNP
0.398
2--
TEX19-
-
-
-
4Gain-
TEX2-
-
-
-
4Gain-
TEX22-
-
-
-
3Gain-
TEX33-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX43-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TEX48-
-
-
-
1Loss-
TEX9-
-
-
-
3Gain-
TFp.P266S
Missense
SNP
0.484
2--
TFAM-
-
-
-
3Gain-
TFCP2L1p.R190*
p.D127N
Nonsense
Missense
SNP
SNP
0.529
0.529
2--
TFEC-
-
-
-
3Gain-
TFIP11-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TGFB2-
-
-
-
1Loss-
TGFB3-
-
-
-
3Gain-
TGFBIp.E126K
Missense
SNP
0.311
3Gain-
TGFBR1-
-
-
-
1Loss-
TGM1p.R79K
Missense
SNP
0.649
3Gain-
TGM3p.W328*
Nonsense
SNP
0.484
2--
TGM5-
-
-
-
3Gain-
TGM7-
-
-
-
3Gain-
TH-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THAP12-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
3Gain-
THBS1-
-
-
-
3Gain-
THBS2p.D125N
Missense
SNP
0.462
2--
THBS4-
-
-
-
1Loss-
THEMISp.D204N
p.H161Y
Missense
Missense
SNP
SNP
0.519
0.487
2--
THG1L-
-
-
-
3Gain-
THNSL1-
-
-
-
3Gain-
THOC3-
-
-
-
3Gain-
THOC5-
-
-
-
3Gain-
THPOp.P294L
Missense
SNP
0.589
2--
THRA-
-
-
-
4Gain-
THRSP-
-
-
-
1Loss-
THSD4p.G465E
Missense
SNP
0.572
3Gain-
THSD7Ap.G977E
Missense
SNP
0.313
3Gain-
THSD7Bp.G975E
p.R1275Q
p.E1323K
p.S1338L
p.R1473W
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.358
0.450
0.424
0.439
0.473
2--
THTPA-
-
-
-
3Gain-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAF1-
-
-
-
4Gain-
TIAL1-
-
-
-
1Loss-
TIAM2p.P453S
Missense
SNP
0.465
2--
TICRR-
-
-
-
3Gain-
TIE1p.G299R
Missense
SNP
0.444
2--
TIFAB-
-
-
-
3Gain-
TIGD3-
-
-
-
1Loss-
TIGD6-
-
-
-
3Gain-
TIMD4-
-
-
-
3Gain-
TIMM10-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
3Gain-
TIMM8B-
-
-
-
1Loss-
TIMM9-
-
-
-
3Gain-
TIMP2-
-
-
-
4Gain-
TIMP3-
-
-
-
3Gain-
TINAGp.R191C
Missense
SNP
0.481
2--
TINF2-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJP1-
-
-
-
3Gain-
TJP2-
-
-
-
1Loss-
TK1-
-
-
-
4Gain-
TKFC-
-
-
-
1Loss-
TLCD1-
-
-
-
4Gain-
TLE1-
-
-
-
1Loss-
TLE3-
-
-
-
3Gain-
TLE4-
-
-
-
1Loss-
TLK2-
-
-
-
4Gain-
TLL1p.M864L
Missense
SNP
0.431
2--
TLL2p.E608K
Missense
SNP
1.000
1Loss-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR4-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX3-
-
-
-
3Gain-
TM2D3-
-
-
-
3Gain-
TM6SF1-
-
-
-
3Gain-
TM7SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
3Gain-
TM9SF3-
-
-
-
1Loss-
TMC1-
-
-
-
1Loss-
TMC3p.R923S
Missense
SNP
0.563
3Gain-
TMC5p.R60K
Missense
SNP
0.517
2--
TMC6-
-
-
-
4Gain-
TMC8-
-
-
-
4Gain-
TMCO5A-
-
-
-
3Gain-
TMCO6-
-
-
-
3Gain-
TMED10-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED7-
-
-
-
3Gain-
TMED7-TICAM2-
-
-
-
3Gain-
TMED8-
-
-
-
3Gain-
TMED9-
-
-
-
3Gain-
TMEFF1-
-
-
-
1Loss-
TMEFF2p.R316Q
Missense
SNP
0.408
2--
TMEM100p.P25S
p.E8K
Missense
Missense
SNP
SNP
0.458
0.531
4Gain-
TMEM101-
-
-
-
4Gain-
TMEM104-
-
-
-
4Gain-
TMEM105-
-
-
-
4Gain-
TMEM106A-
-
-
-
4Gain-
TMEM106B-
-
-
-
3Gain-
TMEM109-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM121-
-
-
-
3Gain-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM132A-
-
-
-
1Loss-
TMEM132Bp.E809K
Missense
SNP
0.466
2--
TMEM132Cp.D1042N
Missense
SNP
0.455
2--
TMEM132Dp.E562K
Missense
SNP
0.533
2--
TMEM132E-
-
-
-
4Gain-
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM141-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
3Gain-
TMEM174-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
3Gain-
TMEM179B-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM199-
-
-
-
4Gain-
TMEM202-
-
-
-
3Gain-
TMEM203-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM210-
-
-
-
1Loss-
TMEM211-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM229B-
-
-
-
3Gain-
TMEM232-
-
-
-
3Gain-
TMEM235-
-
-
-
4Gain-
TMEM236-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM245-
-
-
-
1Loss-
TMEM246p.P204T
Missense
SNP
1.000
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM250-
-
-
-
1Loss-
TMEM251-
-
-
-
3Gain-
TMEM252-
-
-
-
1Loss-
TMEM253-
-
-
-
3Gain-
TMEM254-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM26-
-
-
-
3Gain-
TMEM260-
-
-
-
3Gain-
TMEM262-
-
-
-
1Loss-
TMEM266-
-
-
-
3Gain-
TMEM267-
-
-
-
1Loss-
TMEM268-
-
-
-
1Loss-
TMEM270-
-
-
-
3Gain-
TMEM273-
-
-
-
3Gain-
TMEM30B-
-
-
-
3Gain-
TMEM38B-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM56p.X102_splice
Splice_Site
SNP
0.484
2--
TMEM60-
-
-
-
3Gain-
TMEM62-
-
-
-
3Gain-
TMEM63A-
-
-
-
1Loss-
TMEM63Cp.E319K
Missense
SNP
0.648
3Gain-
TMEM67p.S926Y
Missense
SNP
0.320
2--
TMEM72-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM82p.S71F
Missense
SNP
0.474
2--
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
3Gain-
TMEM92-
-
-
-
4Gain-
TMEM94-
-
-
-
4Gain-
TMEM97-
-
-
-
4Gain-
TMEM98-
-
-
-
4Gain-
TMEM99-
-
-
-
4Gain-
TMEM9B-
-
-
-
1Loss-
TMIGD1-
-
-
-
4Gain-
TMOD1-
-
-
-
1Loss-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMPRSS11Bp.H52Y
Missense
SNP
0.488
2--
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS6-
-
-
-
3Gain-
TMPRSS7p.P707L
Missense
SNP
0.481
2--
TMUB1-
-
-
-
3Gain-
TMUB2-
-
-
-
4Gain-
TMX1-
-
-
-
3Gain-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TNC-
-
-
-
1Loss-
TNFAIP1-
-
-
-
4Gain-
TNFAIP2-
-
-
-
3Gain-
TNFAIP8-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF10Ap.G237R
Missense
SNP
0.455
2--
TNFRSF13C-
-
-
-
3Gain-
TNFSF15-
-
-
-
1Loss-
TNFSF8-
-
-
-
1Loss-
TNIP1-
-
-
-
3Gain-
TNIP3p.G73E
Missense
SNP
0.479
2--
TNKS1BP1-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
3Gain-
TNRC6C-
-
-
-
4Gain-
TNS3-
-
-
-
3Gain-
TNS4p.R464K
Missense
SNP
0.492
4Gain-
TNXB-
-
-
-
1Loss-
TOB1-
-
-
-
4Gain-
TOB2-
-
-
-
3Gain-
TOGARAM1-
-
-
-
3Gain-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
3Gain-
TOM1L1-
-
-
-
4Gain-
TOMM20L-
-
-
-
3Gain-
TOMM22-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP2Ap.P1194S
Missense
SNP
0.243
4Gain-
TOP3B-
-
-
-
3Gain-
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
1Loss-
TOR1B-
-
-
-
1Loss-
TOR2A-
-
-
-
1Loss-
TOR4A-
-
-
-
1Loss-
TOX3p.D93N
Missense
SNP
0.453
2--
TOX4-
-
-
-
3Gain-
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
3Gain-
TP53I11-
-
-
-
1Loss-
TP53I13-
-
-
-
4Gain-
TP63p.H615Y
Missense
SNP
0.452
2--
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPOp.E830K
Missense
SNP
0.516
2--
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
1Loss-
TPPP2-
-
-
-
3Gain-
TPRN-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRABDp.S290F
Missense
SNP
0.321
3Gain-
TRAF1-
-
-
-
1Loss-
TRAF2-
-
-
-
1Loss-
TRAF3-
-
-
-
3Gain-
TRAF4-
-
-
-
4Gain-
TRAF6-
-
-
-
1Loss-
TRAK1p.P370L
Missense
SNP
0.512
2--
TRANK1p.M2650I
Missense
SNP
0.453
2--
TRAPPC13-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
3Gain-
TRAV19p.S94F
Missense
SNP
0.680
NDND-
TRDMT1-
-
-
-
3Gain-
TRDV1-
-
-
-
3Gain-
TREH-
-
-
-
1Loss-
TREM1p.D182N
Missense
SNP
0.603
2--
TRERF1p.S387N
Missense
SNP
0.517
2--
TRHDEp.S268L
Missense
SNP
0.475
2--
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
1Loss-
TRIM13-
-
-
-
3Gain-
TRIM14-
-
-
-
1Loss-
TRIM17-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24p.R391C
Missense
SNP
0.308
3Gain-
TRIM25-
-
-
-
4Gain-
TRIM29-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
1Loss-
TRIM36-
-
-
-
3Gain-
TRIM37-
-
-
-
4Gain-
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
3Gain-
TRIM42p.E207K
Missense
SNP
0.481
2--
TRIM44-
-
-
-
1Loss-
TRIM47-
-
-
-
4Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
3Gain-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM64B-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM65-
-
-
-
4Gain-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
3Gain-
TRIM7-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIM9p.R587C
Missense
SNP
0.310
3Gain-
TRIO-
-
-
-
1Loss-
TRIOBP-
-
-
-
3Gain-
TRIP11p.S1376L
p.S659L
Missense
Missense
SNP
SNP
0.626
0.684
3Gain-
TRIP13-
-
-
-
1Loss-
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRMO-
-
-
-
1Loss-
TRMT112-
-
-
-
1Loss-
TRMT2A-
-
-
-
3Gain-
TRMT5-
-
-
-
3Gain-
TRMT61A-
-
-
-
3Gain-
TRMU-
-
-
-
3Gain-
TRPC1p.R218Q
Missense
SNP
0.512
2--
TRPC3p.E890K
Missense
SNP
0.434
2--
TRPC4p.P341S
Missense
SNP
0.690
2--
TRPC6p.S217F
Missense
SNP
1.000
1Loss-
TRPC7-
-
-
-
3Gain-
TRPM1-
-
-
-
3Gain-
TRPM3-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM6-
-
-
-
1Loss-
TRPM7-
-
-
-
3Gain-
TRPT1-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAPp.P2654L
Missense
SNP
0.634
3Gain-
TRUB1-
-
-
-
1Loss-
TRUB2-
-
-
-
1Loss-
TSC1-
-
-
-
1Loss-
TSC2p.S1433L
Missense
SNP
0.512
2--
TSC22D1p.L618I
Missense
SNP
0.355
2--
TSC22D4-
-
-
-
3Gain-
TSEN2p.V210M
Missense
SNP
0.502
2--
TSEN54-
-
-
-
4Gain-
TSG101-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHR-
-
-
-
3Gain-
TSHZ2p.E471K
Missense
SNP
0.531
2--
TSKU-
-
-
-
1Loss-
TSLP-
-
-
-
3Gain-
TSPAN10-
-
-
-
4Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
3Gain-
TSPAN17-
-
-
-
3Gain-
TSPAN18-
-
-
-
1Loss-
TSPAN2p.R215Q
p.R37W
Missense
Missense
SNP
SNP
0.479
0.415
2--
TSPAN3-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN4-
-
-
-
1Loss-
TSPO-
-
-
-
3Gain-
TSPOAP1-
-
-
-
4Gain-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
3Gain-
TSSK2-
-
-
-
3Gain-
TSSK4-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TSTD2-
-
-
-
1Loss-
TTBK2-
-
-
-
3Gain-
TTC1-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC16-
-
-
-
1Loss-
TTC17-
-
-
-
1Loss-
TTC23-
-
-
-
3Gain-
TTC23L-
-
-
-
1Loss-
TTC25-
-
-
-
4Gain-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
3Gain-
TTC33-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC39Cp.P247S
Missense
SNP
0.563
2--
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
3Gain-
TTC7B-
-
-
-
3Gain-
TTC8-
-
-
-
3Gain-
TTC9-
-
-
-
3Gain-
TTC9C-
-
-
-
1Loss-
TTF1-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL11-
-
-
-
1Loss-
TTLL12-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL2p.D227N
Missense
SNP
0.475
2--
TTLL5-
-
-
-
3Gain-
TTLL6-
-
-
-
4Gain-
TTLL8-
-
-
-
3Gain-
TTNp.E16897K
p.G8657R
p.R7441Q
p.E5706K
p.S5517L
p.A4699V
p.E2571K
p.X2532_splice
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Splice_Site
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.473
0.408
0.517
0.506
0.477
0.532
0.500
0.404
2--
TTYH2-
-
-
-
4Gain-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA3Dp.G354D
Missense
SNP
0.464
2--
TUBA8-
-
-
-
3Gain-
TUBAL3-
-
-
-
3Gain-
TUBB4B-
-
-
-
1Loss-
TUBB8-
-
-
-
3Gain-
TUBD1-
-
-
-
4Gain-
TUBG1-
-
-
-
4Gain-
TUBG2-
-
-
-
4Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4-
-
-
-
3Gain-
TUBGCP5-
-
-
-
3Gain-
TUBGCP6-
-
-
-
3Gain-
TUSC1-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TUT7-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TXN-
-
-
-
1Loss-
TXN2-
-
-
-
3Gain-
TXNDC11p.S525F
Missense
SNP
0.449
2--
TXNDC15-
-
-
-
3Gain-
TXNDC16-
-
-
-
3Gain-
TXNDC8-
-
-
-
1Loss-
TXNRD2-
-
-
-
3Gain-
TYMP-
-
-
-
3Gain-
TYR-
-
-
-
1Loss-
TYRO3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYSND1-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UACA-
-
-
-
3Gain-
UAP1L1-
-
-
-
1Loss-
UBAC1-
-
-
-
1Loss-
UBALD2-
-
-
-
4Gain-
UBAP1L-
-
-
-
3Gain-
UBAP2p.R466*
Nonsense
SNP
0.540
2--
UBASH3B-
-
-
-
1Loss-
UBE2B-
-
-
-
3Gain-
UBE2D1-
-
-
-
3Gain-
UBE2D2-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
1Loss-
UBE2O-
-
-
-
4Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2QL1-
-
-
-
1Loss-
UBE2Z-
-
-
-
4Gain-
UBE3A-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBL7-
-
-
-
3Gain-
UBLCP1-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBQLN1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
3Gain-
UBR7-
-
-
-
3Gain-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
3Gain-
UBTF-
-
-
-
4Gain-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UCHL1p.A100T
Missense
SNP
0.531
2--
UCK1-
-
-
-
1Loss-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFD1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGCG-
-
-
-
1Loss-
UGT2A3p.P186S
Missense
SNP
0.484
2--
UGT2B4p.E45K
Missense
SNP
0.493
2--
UGT3A1p.G176R
Missense
SNP
0.985
1Loss-
UGT3A2-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
3Gain-
ULBP3p.D113N
Missense
SNP
0.540
2--
ULK3-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119-
-
-
-
4Gain-
UNC13Cp.S206F
p.E1701K
Missense
Missense
SNP
SNP
0.533
0.585
3Gain-
UNC13D-
-
-
-
4Gain-
UNC45A-
-
-
-
3Gain-
UNC45B-
-
-
-
4Gain-
UNC5A-
-
-
-
3Gain-
UNC5B-
-
-
-
3Gain-
UNC5Cp.G598E
Missense
SNP
0.627
2--
UNC5Dp.E90K
Missense
SNP
0.471
2--
UNC79p.G668E
Missense
SNP
0.352
3Gain-
UNC80p.R1802K
Missense
SNP
0.526
2--
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNK-
-
-
-
4Gain-
UPB1-
-
-
-
3Gain-
UPF2-
-
-
-
3Gain-
UPK1Bp.R9C
Missense
SNP
0.605
2--
UPK2-
-
-
-
1Loss-
UPK3A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC3-
-
-
-
1Loss-
UQCR10-
-
-
-
3Gain-
UQCRQ-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URM1-
-
-
-
1Loss-
UROS-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USH1G-
-
-
-
4Gain-
USH2Ap.G4201E
Missense
SNP
1.000
2--
USP18-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP20-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP3-
-
-
-
3Gain-
USP32-
-
-
-
4Gain-
USP35-
-
-
-
1Loss-
USP36-
-
-
-
4Gain-
USP4p.P384L
Missense
SNP
0.575
2--
USP41-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP47-
-
-
-
1Loss-
USP50p.E202K
Missense
SNP
0.663
3Gain-
USP53p.P273S
Missense
SNP
0.494
2--
USP54-
-
-
-
3Gain-
USP6p.G962E
Missense
SNP
1.000
2--
USP6NL-
-
-
-
3Gain-
USP7p.H1072Y
Missense
SNP
0.553
2--
USP8-
-
-
-
3Gain-
USP9Xp.P1819S
Missense
SNP
1.000
NDND-
UTF1-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
4Gain-
UTP20p.R2067*
Nonsense
SNP
0.450
2--
UTP4p.R312C
Missense
SNP
0.494
2--
UTP6-
-
-
-
4Gain-
UTS2R-
-
-
-
4Gain-
UVRAG-
-
-
-
1Loss-
VAC14p.S204L
Missense
SNP
0.567
2--
VASH1-
-
-
-
3Gain-
VAT1-
-
-
-
4Gain-
VAV2-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VCANp.M525I
Missense
SNP
1.000
1Loss-
VCL-
-
-
-
3Gain-
VCPKMT-
-
-
-
3Gain-
VDAC1-
-
-
-
3Gain-
VDAC2-
-
-
-
3Gain-
VEGFB-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEZF1-
-
-
-
4Gain-
VGF-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VIPAS39-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMP1-
-
-
-
4Gain-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS13A-
-
-
-
1Loss-
VPS13Bp.P1908H
Missense
SNP
0.509
2--
VPS13C-
-
-
-
3Gain-
VPS13Dp.P3515S
Missense
SNP
0.347
2--
VPS18-
-
-
-
3Gain-
VPS25-
-
-
-
4Gain-
VPS26A-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS33B-
-
-
-
3Gain-
VPS37C-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS51-
-
-
-
1Loss-
VRK1-
-
-
-
3Gain-
VRTNp.G482R
Missense
SNP
0.613
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIR-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM4-
-
-
-
3Gain-
VSTM5-
-
-
-
1Loss-
VSX2p.M183I
Missense
SNP
0.352
3Gain-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
3Gain-
VTN-
-
-
-
4Gain-
VWA2-
-
-
-
1Loss-
VWA3Ap.E372K
Missense
SNP
0.433
2--
VWA5A-
-
-
-
1Loss-
VWA5B1p.S148F
Missense
SNP
0.537
2--
VWC2-
-
-
-
3Gain-
VWC2Lp.R66Q
Missense
SNP
0.504
2--
VWCE-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
VWFp.P514L
Missense
SNP
0.554
2--
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WARSp.Q284*
Nonsense
SNP
0.688
3Gain-
WASHC2A-
-
-
-
3Gain-
WASHC2C-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP1L-
-
-
-
1Loss-
WBP2-
-
-
-
4Gain-
WBP2NLp.G97E
Missense
SNP
0.263
3Gain-
WDFY4p.R644Q
p.E726K
Missense
Missense
SNP
SNP
0.326
0.663
3Gain-
WDHD1-
-
-
-
3Gain-
WDR11-
-
-
-
1Loss-
WDR19p.R43C
Missense
SNP
0.489
2--
WDR20-
-
-
-
3Gain-
WDR25-
-
-
-
3Gain-
WDR26-
-
-
-
1Loss-
WDR31-
-
-
-
1Loss-
WDR33p.S190L
Missense
SNP
0.459
2--
WDR34-
-
-
-
1Loss-
WDR36-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR38-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR45B-
-
-
-
4Gain-
WDR5-
-
-
-
1Loss-
WDR55-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
3Gain-
WDR70-
-
-
-
1Loss-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR74-
-
-
-
1Loss-
WDR76-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR89-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR93p.V64M
Missense
SNP
0.345
3Gain-
WEE1-
-
-
-
1Loss-
WEE2-
-
-
-
3Gain-
WFDC11p.E36K
Missense
SNP
0.432
2--
WFIKKN2-
-
-
-
4Gain-
WHAMM-
-
-
-
3Gain-
WHRN-
-
-
-
1Loss-
WHSC1p.P855L
Missense
SNP
0.444
NDND-
WIPF2-
-
-
-
4Gain-
WIPF3-
-
-
-
3Gain-
WIPI1-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WNK2p.S1330L
Missense
SNP
0.993
1Loss-
WNK4-
-
-
-
4Gain-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3-
-
-
-
4Gain-
WNT3A-
-
-
-
1Loss-
WNT6p.G179E
Missense
SNP
0.548
2--
WNT7B-
-
-
-
3Gain-
WNT8A-
-
-
-
3Gain-
WNT8B-
-
-
-
1Loss-
WNT9A-
-
-
-
1Loss-
WNT9Bp.D80N
Missense
SNP
0.576
4Gain-
WSB1-
-
-
-
4Gain-
WT1p.S299F
Missense
SNP
0.977
1Loss-
WWC1-
-
-
-
3Gain-
XBP1-
-
-
-
3Gain-
XIRP2p.S470F
p.E697K
p.M1190I
p.T2120I
p.G3040E
p.G3382E
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.516
0.496
0.410
0.471
0.451
0.547
2--
XKR7p.E574K
Missense
SNP
0.400
2--
XPA-
-
-
-
1Loss-
XPNPEP1-
-
-
-
1Loss-
XPNPEP3-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
3Gain-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
3Gain-
XRRA1-
-
-
-
1Loss-
XYLT2-
-
-
-
4Gain-
YAE1-
-
-
-
3Gain-
YAP1-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YIF1A-
-
-
-
1Loss-
YIPF5-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YLPM1-
-
-
-
3Gain-
YME1L1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YPEL2-
-
-
-
4Gain-
YPEL4-
-
-
-
1Loss-
YTHDC2-
-
-
-
3Gain-
YTHDF1p.Q117*
Nonsense
SNP
0.461
2--
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
3Gain-
YY1-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
ZACN-
-
-
-
4Gain-
ZANp.R1657C
Missense
SNP
0.693
3Gain-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
3Gain-
ZBED5-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
3Gain-
ZBTB1-
-
-
-
3Gain-
ZBTB16p.R285Q
Missense
SNP
0.970
1Loss-
ZBTB25-
-
-
-
3Gain-
ZBTB26-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB34-
-
-
-
1Loss-
ZBTB42-
-
-
-
3Gain-
ZBTB43-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB6-
-
-
-
1Loss-
ZC2HC1Ap.R82S
Missense
SNP
0.452
2--
ZC2HC1C-
-
-
-
3Gain-
ZC3H12Bp.R88C
Missense
SNP
1.000
NDND-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H14-
-
-
-
3Gain-
ZC3H7B-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZC4H2p.M76I
Missense
SNP
1.000
NDND-
ZCCHC10-
-
-
-
3Gain-
ZCCHC2p.S915F
Missense
SNP
0.602
2--
ZCCHC24-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
1Loss-
ZDHHC12-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
3Gain-
ZDHHC24-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZEB2p.P591S
Missense
SNP
0.449
2--
ZER1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFAND5-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX4p.E1474K
Missense
SNP
0.461
2--
ZFP2p.L61F
Missense
SNP
0.355
3Gain-
ZFP30p.H368Y
Missense
SNP
0.980
2--
ZFP36L1-
-
-
-
3Gain-
ZFP37-
-
-
-
1Loss-
ZFP62-
-
-
-
3Gain-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFR-
-
-
-
1Loss-
ZFYVE1-
-
-
-
3Gain-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
3Gain-
ZFYVE21-
-
-
-
3Gain-
ZFYVE26-
-
-
-
3Gain-
ZFYVE27-
-
-
-
1Loss-
ZIC2p.P336L
Missense
SNP
0.621
2--
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN2p.R762C
Missense
SNP
0.472
2--
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
3Gain-
ZMAT5-
-
-
-
3Gain-
ZMIZ1-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYM6p.H225Y
Missense
SNP
0.469
2--
ZMYND11-
-
-
-
3Gain-
ZMYND19-
-
-
-
1Loss-
ZNF10p.P85S
p.Q227*
Missense
Nonsense
SNP
SNP
0.474
0.478
2--
ZNF106-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF131-
-
-
-
1Loss-
ZNF138-
-
-
-
3Gain-
ZNF143-
-
-
-
1Loss-
ZNF169-
-
-
-
1Loss-
ZNF189-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF207-
-
-
-
4Gain-
ZNF212-
-
-
-
3Gain-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
3Gain-
ZNF22-
-
-
-
3Gain-
ZNF239-
-
-
-
3Gain-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF32-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
3Gain-
ZNF346-
-
-
-
3Gain-
ZNF347p.R442C
Missense
SNP
0.968
2--
ZNF35-
-
-
-
1Loss-
ZNF354A-
-
-
-
3Gain-
ZNF354B-
-
-
-
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF365-
-
-
-
3Gain-
ZNF366p.D373N
Missense
SNP
1.000
1Loss-
ZNF367-
-
-
-
1Loss-
ZNF37A-
-
-
-
3Gain-
ZNF382p.H514Y
Missense
SNP
0.974
2--
ZNF385C-
-
-
-
4Gain-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF408p.R475Q
Missense
SNP
0.969
1Loss-
ZNF410-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF438-
-
-
-
3Gain-
ZNF445p.H858Y
Missense
SNP
0.509
2--
ZNF454-
-
-
-
3Gain-
ZNF462-
-
-
-
1Loss-
ZNF467-
-
-
-
3Gain-
ZNF469p.P2264L
Missense
SNP
0.489
2--
ZNF471p.S89F
Missense
SNP
0.967
2--
ZNF474-
-
-
-
3Gain-
ZNF479p.H459Y
Missense
SNP
0.287
3Gain-
ZNF483-
-
-
-
1Loss-
ZNF484-
-
-
-
1Loss-
ZNF485-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF500p.P324L
Missense
SNP
0.448
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF503-
-
-
-
3Gain-
ZNF510-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF527p.P273S
Missense
SNP
0.984
2--
ZNF534p.H277Y
Missense
SNP
0.846
2--
ZNF536p.S63F
p.D836V
p.S1129F
Missense
Missense
Missense
SNP
SNP
SNP
0.977
0.987
0.979
2--
ZNF573p.G398D
Missense
SNP
0.952
2--
ZNF592-
-
-
-
3Gain-
ZNF599p.R524W
Missense
SNP
0.959
2--
ZNF608-
-
-
-
3Gain-
ZNF609-
-
-
-
3Gain-
ZNF618-
-
-
-
1Loss-
ZNF622-
-
-
-
1Loss-
ZNF623p.E295K
Missense
SNP
0.530
2--
ZNF638p.S1934F
Missense
SNP
0.403
2--
ZNF652-
-
-
-
4Gain-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF678p.S34F
Missense
SNP
1.000
1Loss-
ZNF679p.E411K
Missense
SNP
0.358
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF710-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716p.G14E
p.E495K
Missense
Missense
SNP
SNP
0.602
0.625
3Gain-
ZNF721p.Q82*
Nonsense
SNP
0.459
2--
ZNF727-
-
-
-
3Gain-
ZNF732p.E253K
Missense
SNP
0.487
2--
ZNF735p.G116E
p.R261K
Missense
Missense
SNP
SNP
0.692
0.621
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF750-
-
-
-
4Gain-
ZNF770-
-
-
-
3Gain-
ZNF773p.R378*
Nonsense
SNP
0.977
2--
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF782-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF79-
-
-
-
1Loss-
ZNF793p.S319L
Missense
SNP
0.957
2--
ZNF800-
-
-
-
3Gain-
ZNF804Bp.H729Y
p.G918E
Missense
Missense
SNP
SNP
0.669
0.322
3Gain-
ZNF830-
-
-
-
4Gain-
ZNF831p.R1217Q
Missense
SNP
0.484
2--
ZNF839-
-
-
-
3Gain-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF879-
-
-
-
3Gain-
ZNF883-
-
-
-
1Loss-
ZNF90p.G59E
Missense
SNP
0.960
2--
ZNF92-
-
-
-
3Gain-
ZNF99p.S816F
p.G142E
Missense
Missense
SNP
SNP
0.933
0.926
2--
ZNHIT1-
-
-
-
3Gain-
ZNHIT2-
-
-
-
1Loss-
ZNHIT3-
-
-
-
4Gain-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
3Gain-
ZP1-
-
-
-
1Loss-
ZP2p.S163F
Missense
SNP
0.516
2--
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPBP2-
-
-
-
4Gain-
ZPLD1p.S392L
Missense
SNP
0.507
2--
ZPR1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZSCAN18p.E539K
Missense
SNP
1.000
2--
ZSCAN2-
-
-
-
3Gain-
ZSCAN20p.P167S
Missense
SNP
0.505
2--
ZSCAN21-
-
-
-
3Gain-
ZSCAN23p.R48C
Missense
SNP
0.514
2--
ZSCAN25-
-
-
-
3Gain-
ZSCAN29-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZSWIM8-
-
-
-
3Gain-
ZW10-
-
-
-
1Loss-
ZWILCH-
-
-
-
3Gain-
ZWINT-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-